Materiały źródłowe

• #1 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis. […] The management of ARPKD consists of supportive therapy, as there is no curative intervention. Treatment is provided by a multidisciplinary team consisting of perinatologists, neonatologists, nephrologists, hepatologists, and geneticists that coordinate care from the perinatal period to adulthood. […] Once a presumptive prenatal diagnosis of ARPKD is made, ultrasound monitoring every two to three weeks is suggested to monitor kidney size and amniotic fluid volume.

• #2 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder primarily affecting the kidneys and liver. Clinicians should recognize early signs such as enlarged, echogenic kidneys in utero or during infancy. ARPKD most commonly results from mutations in PKHD1, causing renal cysts and congenital hepatic fibrosis early in life. About half of the patients with ARPKD develop end-stage renal failure requiring renal replacement therapy (dialysis or kidney transplantation) within the first 2 decades of life. In addition, hepatic function must be closely followed, as portal hypertension, splenomegaly, and cholangitis are common, especially in older patients. […] This course provides in-depth insights into the diverse clinical presentations, diagnostic modalities, and management strategies for this rare genetic disorder. Clinicians gain proficiency in recognizing early signs, conducting genetic testing, and implementing a comprehensive, interprofessional approach to patient care.

• #3 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/urinary-tract/autosomal-recessive-polycystic-kidneys

  Investigations: […] Detailed ultrasound examination. Genetic testing: the disease is caused by mutations in the PKHD1 gene on chromosome 6p21. Prenatal diagnosis in families at risk can be carried out by first-trimester chorion villous sampling (reliable prenatal diagnosis in 80% of affected families). […] Follow up: […] Ultrasound scans every 4 weeks to monitor growth and assess amniotic fluid volume. […] Delivery: […] Place: hospital with neonatal intensive care. Time: 38 weeks. Method: induction of labor aiming for vaginal delivery. […] Prognosis: […] The prenatal type is lethal either in utero or in the neonatal period due to pulmonary hypoplasia. The infantile and juvenile types result in chronic renal failure, hepatic fibrosis and portal hypertension; many cases survive into their teens and require renal transplant. […] Recurrence: […] Risk of recurrence: 25%.

• #4 Polycystic kidney disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/polycystic-kidney-disease/

  Polycystic kidney disease also can be inherited in an autosomal recessive pattern. People with this form of the condition have two altered copies of the PKHD1 gene in each cell. The parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

• #5

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with major clinical variability. ARPKD frequently presents perinatally, and the management of perinatal and early disease symptoms may be challenging. […] This review therefore focuses on aspects of ARPKD management early in life. […] Given the complexity of postnatal treatment of patients with suspected ARPKD, delivery in a hospital with specialized neonatal and pediatric nephrological care may be required. Severely affected children and their families will benefit from an interdisciplinary treatment. This includes situations in which the decisions for palliative treatment with restriction of intensive care including dialysis may have to be taken.

• #6 Autosomal Recessive Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that affects 1 in 20,000 children. A fetus or baby with ARPKD has fluid-filled kidney cysts that may make the kidneys too big, or enlarged. ARPKD can cause a child to have poor kidney function, even in the womb. […] Poor kidney function can cause breathing problems that can threaten the life of a fetus or baby. […] However, children or young adults with ARPKD will likely need medical treatment their whole life. […] Getting good prenatal care is important for increasing a childs survival rate. Working with a health care team as soon as possible can help parents manage their childs PKD. […] The early signs of ARPKD often appear during the first few months of life and in the womb. […] A health care provider can see enlarged kidneys in a fetus or an infant using ultrasound imaging, also called a sonogram.

• #7 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis. […] The management of ARPKD consists of supportive therapy, as there is no curative intervention. Treatment is provided by a multidisciplinary team consisting of perinatologists, neonatologists, nephrologists, hepatologists, and geneticists that coordinate care from the perinatal period to adulthood. […] Once a presumptive prenatal diagnosis of ARPKD is made, ultrasound monitoring every two to three weeks is suggested to monitor kidney size and amniotic fluid volume.

• #8 Pediatric polycystic kidney disease: Personalized care, innovative therapies – Mayo Clinic

  https://www.mayoclinic.org/medical-professionals/pediatrics/news/pediatric-polycystic-kidney-disease-personalized-care-innovative-therapies/mac-20568952

  Polycystic kidney disease (PKD) is an inherited disorder in which clusters of fluid-filled cysts develop primarily within the kidneys, causing the kidneys to enlarge and lose function over time. […] Autosomal recessive polycystic kidney disease (ARPKD) is less common than ADPKD. Symptoms typically appear shortly after birth, although sometimes they may not manifest until later in childhood or during adolescence. Children born with this condition often develop kidney failure before reaching adulthood. ARPKD also affects the liver, causing scarring and decreased liver function. […] Each patient’s PKD care team coordinates any necessary lab tests, imaging and referrals to other Mayo Clinic specialties. […] „Our patients receive personalized treatment plans based on our state-of-the-art imaging and comprehensive genetic testing,” says Dr. Hanna. „Mayo’s multidisciplinary expertise in PKD allows us to treat each patient’s unique complex needs depending on a variety of factors including their disease progression and pathogenic variants.”

• #9 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis. […] The management of ARPKD consists of supportive therapy, as there is no curative intervention. Treatment is provided by a multidisciplinary team consisting of perinatologists, neonatologists, nephrologists, hepatologists, and geneticists that coordinate care from the perinatal period to adulthood. […] Once a presumptive prenatal diagnosis of ARPKD is made, ultrasound monitoring every two to three weeks is suggested to monitor kidney size and amniotic fluid volume.

• #10 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects. […] Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. […] ARPKD necessitates a collaborative approach among healthcare professionals to ensure patient-centered care and improve overall outcomes.

• #11 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #12 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #13 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis. […] The management of ARPKD consists of supportive therapy, as there is no curative intervention. Treatment is provided by a multidisciplinary team consisting of perinatologists, neonatologists, nephrologists, hepatologists, and geneticists that coordinate care from the perinatal period to adulthood. […] Once a presumptive prenatal diagnosis of ARPKD is made, ultrasound monitoring every two to three weeks is suggested to monitor kidney size and amniotic fluid volume.

• #14 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis. […] The management of ARPKD consists of supportive therapy, as there is no curative intervention. Treatment is provided by a multidisciplinary team consisting of perinatologists, neonatologists, nephrologists, hepatologists, and geneticists that coordinate care from the perinatal period to adulthood. […] Once a presumptive prenatal diagnosis of ARPKD is made, ultrasound monitoring every two to three weeks is suggested to monitor kidney size and amniotic fluid volume.

• #15 Polycystic Kidney Disease Diagnosis & Treatments NYC | Mount Sinai – New York

  https://www.mountsinai.org/care/nephrology/services/polycystic-kidney-disease

  Mount Sinai nephrologists and collaborating specialists employ a full range of medical and support services throughout the courses of your treatment. We pride ourselves in caring for our PKD patients with: […] Genetic counseling. Our genetics department specializes in evaluating and counseling you and your family with a history of PKD. […] Transplantation. We work closely with our transplant team and may suggest that you get an evaluation for a kidney transplant. Our Recanati/Miller Transplantation Institute surgeons and physicians, along with specialized nurses and social workers, coordinate care before and after kidney transplantation.

• #16 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects. […] Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. […] ARPKD necessitates a collaborative approach among healthcare professionals to ensure patient-centered care and improve overall outcomes.

• #17

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  The underlying pathophysiology resulting in the partly massive hypertension in ARPKD is not well understood, but dysregulation of renal sodium and volume handling with impaired urinary dilution and an activation of the renin-angiotensin system have been suggested. […] Failure to thrive is a general concern in children with early-onset CKD but may pose a specific challenge in children with ARPKD. […] It is obvious that families of severely affected children will greatly benefit from specific nutritional consulting. Furthermore, the value of psychosocial support can hardly be overestimated for families of children with such an early-onset chronic kidney disease.

• #18

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  The underlying pathophysiology resulting in the partly massive hypertension in ARPKD is not well understood, but dysregulation of renal sodium and volume handling with impaired urinary dilution and an activation of the renin-angiotensin system have been suggested. […] Failure to thrive is a general concern in children with early-onset CKD but may pose a specific challenge in children with ARPKD. […] It is obvious that families of severely affected children will greatly benefit from specific nutritional consulting. Furthermore, the value of psychosocial support can hardly be overestimated for families of children with such an early-onset chronic kidney disease.

• #19 CE Activity | Autosomal Recessive Polycystic Kidney Disease | Nurses

  https://www.statpearls.com/nurse/ce/activity/100961/?specialty=Nurse-Neonatal%20Transport%20C-NPT

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects.

• #20

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with major clinical variability. ARPKD frequently presents perinatally, and the management of perinatal and early disease symptoms may be challenging. […] This review therefore focuses on aspects of ARPKD management early in life. […] Given the complexity of postnatal treatment of patients with suspected ARPKD, delivery in a hospital with specialized neonatal and pediatric nephrological care may be required. Severely affected children and their families will benefit from an interdisciplinary treatment. This includes situations in which the decisions for palliative treatment with restriction of intensive care including dialysis may have to be taken.

• #21 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/urinary-tract/autosomal-recessive-polycystic-kidneys

  Investigations: […] Detailed ultrasound examination. Genetic testing: the disease is caused by mutations in the PKHD1 gene on chromosome 6p21. Prenatal diagnosis in families at risk can be carried out by first-trimester chorion villous sampling (reliable prenatal diagnosis in 80% of affected families). […] Follow up: […] Ultrasound scans every 4 weeks to monitor growth and assess amniotic fluid volume. […] Delivery: […] Place: hospital with neonatal intensive care. Time: 38 weeks. Method: induction of labor aiming for vaginal delivery. […] Prognosis: […] The prenatal type is lethal either in utero or in the neonatal period due to pulmonary hypoplasia. The infantile and juvenile types result in chronic renal failure, hepatic fibrosis and portal hypertension; many cases survive into their teens and require renal transplant. […] Recurrence: […] Risk of recurrence: 25%.

• #22 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis. […] The management of ARPKD consists of supportive therapy, as there is no curative intervention. Treatment is provided by a multidisciplinary team consisting of perinatologists, neonatologists, nephrologists, hepatologists, and geneticists that coordinate care from the perinatal period to adulthood. […] Once a presumptive prenatal diagnosis of ARPKD is made, ultrasound monitoring every two to three weeks is suggested to monitor kidney size and amniotic fluid volume.

• #23 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children/print

  Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis. […] The management of ARPKD consists of supportive therapy, as there is no curative intervention. Treatment is provided by a multidisciplinary team consisting of perinatologists, neonatologists, nephrologists, hepatologists, and geneticists that coordinate care from the perinatal period to adulthood. […] Once a presumptive prenatal diagnosis of ARPKD is made, ultrasound monitoring every two to three weeks is suggested to monitor kidney size and amniotic fluid volume.

• #24 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/urinary-tract/autosomal-recessive-polycystic-kidneys

  Autosomal recessive polycystic kidneys […] Prevalence: […] 1 in 30,000 births. The disease has a wide spectrum of renal and hepatic involvement and it is subdivided into perinatal, neonatal, infantile and juvenile types on the basis of the age of onset of the clinical presentation. […] Ultrasound diagnosis: […] Bilaterally enlarged and homogeneously hyperechogenic kidneys. Usually found 24 weeks gestation. Renal pelvises cannot be visualised. Gradual onset of oligohydramnios from the second trimester. […] Associated abnormalities: […] The incidence of chromosomal abnormalities and genetic syndroms is not increased. Cystic fibrosis of the liver: the liver appearances are normal, despite the presence of cysts, portal fibrosis and proliferation of bile ducts. The more severe the renal disease, the less severe is the hepatic fibrosis.

• #25 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/urinary-tract/autosomal-recessive-polycystic-kidneys

  Autosomal recessive polycystic kidneys […] Prevalence: […] 1 in 30,000 births. The disease has a wide spectrum of renal and hepatic involvement and it is subdivided into perinatal, neonatal, infantile and juvenile types on the basis of the age of onset of the clinical presentation. […] Ultrasound diagnosis: […] Bilaterally enlarged and homogeneously hyperechogenic kidneys. Usually found 24 weeks gestation. Renal pelvises cannot be visualised. Gradual onset of oligohydramnios from the second trimester. […] Associated abnormalities: […] The incidence of chromosomal abnormalities and genetic syndroms is not increased. Cystic fibrosis of the liver: the liver appearances are normal, despite the presence of cysts, portal fibrosis and proliferation of bile ducts. The more severe the renal disease, the less severe is the hepatic fibrosis.

• #26 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/urinary-tract/autosomal-recessive-polycystic-kidneys

  Autosomal recessive polycystic kidneys […] Prevalence: […] 1 in 30,000 births. The disease has a wide spectrum of renal and hepatic involvement and it is subdivided into perinatal, neonatal, infantile and juvenile types on the basis of the age of onset of the clinical presentation. […] Ultrasound diagnosis: […] Bilaterally enlarged and homogeneously hyperechogenic kidneys. Usually found 24 weeks gestation. Renal pelvises cannot be visualised. Gradual onset of oligohydramnios from the second trimester. […] Associated abnormalities: […] The incidence of chromosomal abnormalities and genetic syndroms is not increased. Cystic fibrosis of the liver: the liver appearances are normal, despite the presence of cysts, portal fibrosis and proliferation of bile ducts. The more severe the renal disease, the less severe is the hepatic fibrosis.

• #27 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/urinary-tract/autosomal-recessive-polycystic-kidneys

  Investigations: […] Detailed ultrasound examination. Genetic testing: the disease is caused by mutations in the PKHD1 gene on chromosome 6p21. Prenatal diagnosis in families at risk can be carried out by first-trimester chorion villous sampling (reliable prenatal diagnosis in 80% of affected families). […] Follow up: […] Ultrasound scans every 4 weeks to monitor growth and assess amniotic fluid volume. […] Delivery: […] Place: hospital with neonatal intensive care. Time: 38 weeks. Method: induction of labor aiming for vaginal delivery. […] Prognosis: […] The prenatal type is lethal either in utero or in the neonatal period due to pulmonary hypoplasia. The infantile and juvenile types result in chronic renal failure, hepatic fibrosis and portal hypertension; many cases survive into their teens and require renal transplant. […] Recurrence: […] Risk of recurrence: 25%.

• #28 Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-019-2293-3

  Autosomal recessive renal polycystic kidney disease occurs in 1 in 20,000 live births. Management of delivery in cases of suspected autosomal recessive renal polycystic kidney disease is rarely discussed, and literature concerning abdominal dystocia is extremely scarce. Management of delivery in cases of suspected autosomal recessive renal polycystic kidney disease needs to be discussed because of the risk of abdominal dystocia. The route and timing of delivery depend on the size of the fetal abdominal circumference and the gestational age. The rate of kidney growth must also be taken into account. […] Although abdominal dystocia is a major risk influencing obstetric care, management of delivery in cases of suspected ARPKD is rarely discussed. […] In cases of increased abdominal circumference due to suspected ARPKD, mode of delivery needs to be discussed. […] Management of delivery must be discussed because of the risk of abdominal dystocia. Route and timing of delivery depend on the size of the fetal abdominal circumference, the gestational age, and the rate of kidney growth. We recommend performing episiotomy to avoid abdominal trauma.

• #29 Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-019-2293-3

  Autosomal recessive renal polycystic kidney disease occurs in 1 in 20,000 live births. Management of delivery in cases of suspected autosomal recessive renal polycystic kidney disease is rarely discussed, and literature concerning abdominal dystocia is extremely scarce. Management of delivery in cases of suspected autosomal recessive renal polycystic kidney disease needs to be discussed because of the risk of abdominal dystocia. The route and timing of delivery depend on the size of the fetal abdominal circumference and the gestational age. The rate of kidney growth must also be taken into account. […] Although abdominal dystocia is a major risk influencing obstetric care, management of delivery in cases of suspected ARPKD is rarely discussed. […] In cases of increased abdominal circumference due to suspected ARPKD, mode of delivery needs to be discussed. […] Management of delivery must be discussed because of the risk of abdominal dystocia. Route and timing of delivery depend on the size of the fetal abdominal circumference, the gestational age, and the rate of kidney growth. We recommend performing episiotomy to avoid abdominal trauma.

• #30 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Neonatal management initially focuses on stabilizing the respiratory status of patients with respiratory distress, followed by a clinical assessment confirming the diagnosis and a thorough evaluation of the neonate’s kidney status. […] For patients who survive the neonatal period, management focuses on the care of kidney and hepatic complications, including ongoing surveillance. […] The management of patients with progressive impaired kidney function is similar to that of patients with other forms of chronic kidney disease. […] KRT improves survival for children with ARPKD and ESKD.

• #31 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children/print

  Neonatal management initially focuses on stabilizing the respiratory status of patients with respiratory distress, followed by a clinical assessment confirming the diagnosis and a thorough evaluation of the neonate’s kidney status. […] For patients who survive the neonatal period, there is improvement of kidney function due to continued renal maturation. However, over time progressive deterioration of kidney function develops, which may be rapid or slow, and often results in ESKD. […] Management of patients who survive the neonatal period focuses on the care of kidney and hepatic complications, including ongoing surveillance. […] The management of patients with progressive impaired kidney function is similar to that of patients with other forms of chronic kidney disease. […] KRT is needed in patients who progress to ESKD. Kidney transplantation is the preferred KRT because there is no disease recurrence, and the outcome is excellent.

• #32 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is a very severe disease. About one in three babies with confirmed ARPKD die of breathing problems within the first four weeks because their lungs do not develop properly in the womb. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #33 Orphanet: Autosomal recessive polycystic kidney disease

  https://www.orpha.net/en/disease/detail/731

  A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. […] Treatment is supportive with conservative management of chronic kidney disease and hepatic symptoms. In newborns, pulmonary hypoplasia may require mechanical or high frequency ventilation. Hypertension needs aggressive management, often requiring a combination of several drugs, among which angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARB) are the mainstays. Peritoneal dialysis is recommended as first choice renal replacement treatment (RRT) for children with end-stage renal disease (ESRD). Renal transplantation is the best solution in case of ESRD. Depending on the hepatic phenotype, combined liver and kidney transplantation may be necessary. Regular monitoring of the liver disease is required to identify complications. Liver transplantation may be necessary. Multidisciplinary support should be considered for associated neurocognitive and behavioral problems.

• #34 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #35 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #36 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #37 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #38 Autosomal Recessive Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd

  Working with a health care team as soon as possible can help manage these complications. […] Health care providers diagnose ARPKD with ultrasound imaging. The test can show enlarged kidneys and liver scarring. […] One or both kidneys may need to be removed if their size makes breathing impossible. […] A health care provider may treat growth failure with nutritional therapy. […] Health care providers treat infants with breathing problems with artificial ventilation, which allows them to breathe with the help of a machine. […] Peritoneal dialysis is the preferred method of treating children with kidney failure, although health care providers also use hemodialysis. […] A health care provider can help control blood pressure with medicines. Treating high blood pressure can help delay kidney failure.

• #39 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is a very severe disease. About one in three babies with confirmed ARPKD die of breathing problems within the first four weeks because their lungs do not develop properly in the womb. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #40 Orphanet: Autosomal recessive polycystic kidney disease

  https://www.orpha.net/en/disease/detail/731

  The disease is associated with reduced life expectancy, although survival is improving. In the case of neonatal respiratory distress, mortality has been described as high as 30-40%. For patients surviving the neonatal period, about 50% will develop ESRD within the first decade of life. CHF is an important cause of morbidity and mortality.

• #41 Polycystic Kidney Disease Causes, Symptoms, and Treatments

  https://www.upmc.com/services/kidney-disease/conditions/polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare form of PKD. It happens when both biological parents pass a mutated (changed) PKHD1 gene or other gene to their child. […] ARPKD can sometimes be diagnosed before birth with a prenatal ultrasound. The ultrasound may show that the baby has larger-than-average kidneys, cysts on the kidneys, or low amniotic fluid levels. […] Signs of ARPKD in children after birth include: Abdominal or low back pain. Difficulty breathing. Frequent UTIs. Growth problems (failure to thrive). High blood pressure. Low birth weight. Swollen abdomen. […] About a third of all babies born with ARPKD don’t survive their first month of life. Babies who survive their first month of life usually live into adulthood. About half of these children will develop kidney failure by age 15 to 20 and will need dialysis or kidney transplant.

• #42 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Because of the large size of the kidneys, unilateral or bilateral nephrectomy is often performed if respiratory compromise is present in the neonatal period or if failure to thrive is present because of the large, bilateral, space-occupying masses that prevent appropriate nourishment. […] Once children are in end-stage renal disease, dialysis or transplantation is the only option. Renal transplantation may be necessary in a large number of patients with ARPKD. […] With better renal care, the course of children with ARPKD is further complicated by the hepatic complications described earlier, which require specific therapy by specialists. A large number of hepatic complications require surgical management (eg, sclerotherapy for esophageal varices or portocaval and splenorenal shunt placement).

• #43 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Because of the large size of the kidneys, unilateral or bilateral nephrectomy is often performed if respiratory compromise is present in the neonatal period or if failure to thrive is present because of the large, bilateral, space-occupying masses that prevent appropriate nourishment. […] Once children are in end-stage renal disease, dialysis or transplantation is the only option. Renal transplantation may be necessary in a large number of patients with ARPKD. […] With better renal care, the course of children with ARPKD is further complicated by the hepatic complications described earlier, which require specific therapy by specialists. A large number of hepatic complications require surgical management (eg, sclerotherapy for esophageal varices or portocaval and splenorenal shunt placement).

• #44

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  An important detail that could not be addressed by the IPPN study concerns nephrectomies for peritoneal dialysis in ARPKD. […] The evidence that supports potential benefits of nephrectomies is limited and needs to be weighed against the potential risks and sequelae of nephrectomies, e.g., resulting from loss of nephron mass and kidney function with a subsequent need for kidney replacement therapy. […] A recent ARegPKD study compared ARPKD children after very early bilateral nephrectomies (both nephrectomies within the first three months of life, VEBNE) with children after early bilateral nephrectomies (bilateral nephrectomies within the subsequent year), very early dialysis (start of dialysis in first three months of life), and a control group with large total kidney volume. […] A common and severe problem of ARPKD in the first few months of life is arterial hypertension that may be very severe and may require treatment with multiple drug classes.

• #45

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  An important detail that could not be addressed by the IPPN study concerns nephrectomies for peritoneal dialysis in ARPKD. […] The evidence that supports potential benefits of nephrectomies is limited and needs to be weighed against the potential risks and sequelae of nephrectomies, e.g., resulting from loss of nephron mass and kidney function with a subsequent need for kidney replacement therapy. […] A recent ARegPKD study compared ARPKD children after very early bilateral nephrectomies (both nephrectomies within the first three months of life, VEBNE) with children after early bilateral nephrectomies (bilateral nephrectomies within the subsequent year), very early dialysis (start of dialysis in first three months of life), and a control group with large total kidney volume. […] A common and severe problem of ARPKD in the first few months of life is arterial hypertension that may be very severe and may require treatment with multiple drug classes.

• #46

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  An important detail that could not be addressed by the IPPN study concerns nephrectomies for peritoneal dialysis in ARPKD. […] The evidence that supports potential benefits of nephrectomies is limited and needs to be weighed against the potential risks and sequelae of nephrectomies, e.g., resulting from loss of nephron mass and kidney function with a subsequent need for kidney replacement therapy. […] A recent ARegPKD study compared ARPKD children after very early bilateral nephrectomies (both nephrectomies within the first three months of life, VEBNE) with children after early bilateral nephrectomies (bilateral nephrectomies within the subsequent year), very early dialysis (start of dialysis in first three months of life), and a control group with large total kidney volume. […] A common and severe problem of ARPKD in the first few months of life is arterial hypertension that may be very severe and may require treatment with multiple drug classes.

• #47

  https://link.springer.com/article/10.1007/s00467-013-2634-1

  Treatment for ARPKD is focused on minimizing and treating the long-term complications of kidney and liver disease, including hypertension, chronic kidney disease, PH, varices, ascending cholangitis, and liver failure. Systemic hypertension is very common in neonates, infants, and adolescents. It affects approximately 80 % of all ARPKD patients and has a major impact on cardiovascular comorbidities, such as stroke, left ventricular hypertrophy, and congestive heart failure. Therefore, strict blood pressure control is required. […] There is currently no cure for ARPKD. Treatment focuses on managing the clinical complications derived either directly or indirectly from this disease, such as pulmonary hypoplasia, chronic renal insufficiency, arterial hypertension, and liver/biliary disease. The clinical management of problems related to extrarenal manifestations in ARPKD is complex, lacks evidence-based experience, and is therefore certainly not easily resolved by any form of treatment algorithms.

• #48 Polycystic Kidney Disease | PKD Diagnosis & Treatment | DaVita Kidney Care

  http://www.davita.com/education/kidney-disease/related-diseases/polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is rare and strikes infants, sometimes even before birth. […] Both parents must be carriers of the ARPKD gene to pass it to a child and each of their children has a one in four chance of getting the disease. […] ARPKD affects about one out of every 10,000 people in the US. […] Because this disease can start affecting babies before they are born, it is also called infantile PKD. Babies with this disease have a high death rate in their first month. […] Blood pressure must also be monitored. Most children develop high blood pressure by the time they are a year old. […] To help children with ARPKD be as healthy as possible they should see a pediatric nephrologist (a doctor specializing in caring for children with kidney disease). The pediatric nephrologist will prescribe medicine to control high blood pressure and antibiotics for urinary tract infections when necessary. […] Of children with ARPKD, about one-third will need dialysis or kidney transplant by the time they are 10-years old.

• #49

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  An important detail that could not be addressed by the IPPN study concerns nephrectomies for peritoneal dialysis in ARPKD. […] The evidence that supports potential benefits of nephrectomies is limited and needs to be weighed against the potential risks and sequelae of nephrectomies, e.g., resulting from loss of nephron mass and kidney function with a subsequent need for kidney replacement therapy. […] A recent ARegPKD study compared ARPKD children after very early bilateral nephrectomies (both nephrectomies within the first three months of life, VEBNE) with children after early bilateral nephrectomies (bilateral nephrectomies within the subsequent year), very early dialysis (start of dialysis in first three months of life), and a control group with large total kidney volume. […] A common and severe problem of ARPKD in the first few months of life is arterial hypertension that may be very severe and may require treatment with multiple drug classes.

• #50

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  The underlying pathophysiology resulting in the partly massive hypertension in ARPKD is not well understood, but dysregulation of renal sodium and volume handling with impaired urinary dilution and an activation of the renin-angiotensin system have been suggested. […] Failure to thrive is a general concern in children with early-onset CKD but may pose a specific challenge in children with ARPKD. […] It is obvious that families of severely affected children will greatly benefit from specific nutritional consulting. Furthermore, the value of psychosocial support can hardly be overestimated for families of children with such an early-onset chronic kidney disease.

• #51 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #52

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function.

• #53 Orphanet: Autosomal recessive polycystic kidney disease

  https://www.orpha.net/en/disease/detail/731

  A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. […] Treatment is supportive with conservative management of chronic kidney disease and hepatic symptoms. In newborns, pulmonary hypoplasia may require mechanical or high frequency ventilation. Hypertension needs aggressive management, often requiring a combination of several drugs, among which angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARB) are the mainstays. Peritoneal dialysis is recommended as first choice renal replacement treatment (RRT) for children with end-stage renal disease (ESRD). Renal transplantation is the best solution in case of ESRD. Depending on the hepatic phenotype, combined liver and kidney transplantation may be necessary. Regular monitoring of the liver disease is required to identify complications. Liver transplantation may be necessary. Multidisciplinary support should be considered for associated neurocognitive and behavioral problems.

• #54

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function.

• #55 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #56

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function.

• #57 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #58 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #59

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function.

• #60 Orphanet: Autosomal recessive polycystic kidney disease

  https://www.orpha.net/en/disease/detail/731

  A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. […] Treatment is supportive with conservative management of chronic kidney disease and hepatic symptoms. In newborns, pulmonary hypoplasia may require mechanical or high frequency ventilation. Hypertension needs aggressive management, often requiring a combination of several drugs, among which angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARB) are the mainstays. Peritoneal dialysis is recommended as first choice renal replacement treatment (RRT) for children with end-stage renal disease (ESRD). Renal transplantation is the best solution in case of ESRD. Depending on the hepatic phenotype, combined liver and kidney transplantation may be necessary. Regular monitoring of the liver disease is required to identify complications. Liver transplantation may be necessary. Multidisciplinary support should be considered for associated neurocognitive and behavioral problems.

• #61

  https://link.springer.com/article/10.1007/s00467-013-2634-1

  Treatment for ARPKD is focused on minimizing and treating the long-term complications of kidney and liver disease, including hypertension, chronic kidney disease, PH, varices, ascending cholangitis, and liver failure. Systemic hypertension is very common in neonates, infants, and adolescents. It affects approximately 80 % of all ARPKD patients and has a major impact on cardiovascular comorbidities, such as stroke, left ventricular hypertrophy, and congestive heart failure. Therefore, strict blood pressure control is required. […] There is currently no cure for ARPKD. Treatment focuses on managing the clinical complications derived either directly or indirectly from this disease, such as pulmonary hypoplasia, chronic renal insufficiency, arterial hypertension, and liver/biliary disease. The clinical management of problems related to extrarenal manifestations in ARPKD is complex, lacks evidence-based experience, and is therefore certainly not easily resolved by any form of treatment algorithms.

• #62 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children/print

  Neonatal management initially focuses on stabilizing the respiratory status of patients with respiratory distress, followed by a clinical assessment confirming the diagnosis and a thorough evaluation of the neonate’s kidney status. […] For patients who survive the neonatal period, there is improvement of kidney function due to continued renal maturation. However, over time progressive deterioration of kidney function develops, which may be rapid or slow, and often results in ESKD. […] Management of patients who survive the neonatal period focuses on the care of kidney and hepatic complications, including ongoing surveillance. […] The management of patients with progressive impaired kidney function is similar to that of patients with other forms of chronic kidney disease. […] KRT is needed in patients who progress to ESKD. Kidney transplantation is the preferred KRT because there is no disease recurrence, and the outcome is excellent.

• #63 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children/print

  Neonatal management initially focuses on stabilizing the respiratory status of patients with respiratory distress, followed by a clinical assessment confirming the diagnosis and a thorough evaluation of the neonate’s kidney status. […] For patients who survive the neonatal period, there is improvement of kidney function due to continued renal maturation. However, over time progressive deterioration of kidney function develops, which may be rapid or slow, and often results in ESKD. […] Management of patients who survive the neonatal period focuses on the care of kidney and hepatic complications, including ongoing surveillance. […] The management of patients with progressive impaired kidney function is similar to that of patients with other forms of chronic kidney disease. […] KRT is needed in patients who progress to ESKD. Kidney transplantation is the preferred KRT because there is no disease recurrence, and the outcome is excellent.

• #64 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Neonatal management initially focuses on stabilizing the respiratory status of patients with respiratory distress, followed by a clinical assessment confirming the diagnosis and a thorough evaluation of the neonate’s kidney status. […] For patients who survive the neonatal period, management focuses on the care of kidney and hepatic complications, including ongoing surveillance. […] The management of patients with progressive impaired kidney function is similar to that of patients with other forms of chronic kidney disease. […] KRT improves survival for children with ARPKD and ESKD.

• #65 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is a very severe disease. About one in three babies with confirmed ARPKD die of breathing problems within the first four weeks because their lungs do not develop properly in the womb. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #66 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects. […] Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. […] ARPKD necessitates a collaborative approach among healthcare professionals to ensure patient-centered care and improve overall outcomes.

• #67 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #68 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects. […] Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. […] ARPKD necessitates a collaborative approach among healthcare professionals to ensure patient-centered care and improve overall outcomes.

• #69 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #70 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects. […] Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. […] ARPKD necessitates a collaborative approach among healthcare professionals to ensure patient-centered care and improve overall outcomes.

• #71 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #72 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects. […] Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. […] ARPKD necessitates a collaborative approach among healthcare professionals to ensure patient-centered care and improve overall outcomes.

• #73 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects. […] Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. […] ARPKD necessitates a collaborative approach among healthcare professionals to ensure patient-centered care and improve overall outcomes.

• #74 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #75 Polycystic Kidney Disease (PKD): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/5791-polycystic-kidney-disease

  ARPKD is a rare form of PKD, also called infantile PKD. It causes abnormal kidney development during fetal development. Healthcare providers most often diagnose this type in a fetus during pregnancy or shortly after a baby is born. To get this type of PKD, both biological parents must have and pass along the PKHD1 gene mutation to their child. […] Signs of autosomal recessive polycystic kidney disease (ARPKD) include low birth weight, swollen abdomen, high blood pressure at birth, and breathing problems. […] ARPKD can be fatal in babies who are born with a severe case of the disease. The first month of life is critical for babies born with ARKPD. […] Theres no cure for PKD. The goal of treatment is to slow the progression of the disease and control the symptoms it causes. […] A healthcare provider may also recommend genetic testing. A blood or saliva test can check for the mutated genes that cause PKD. […] Living a healthy lifestyle can go a long way in managing PKD. Some tips for healthy living include: Eat a kidney-friendly diet. A dietitian can talk to you about which foods to avoid. […] It’s important to work with your provider and follow their instructions to manage the condition.

• #76 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is a very severe disease. About one in three babies with confirmed ARPKD die of breathing problems within the first four weeks because their lungs do not develop properly in the womb. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #77 Orphanet: Autosomal recessive polycystic kidney disease

  https://www.orpha.net/en/disease/detail/731

  The disease is associated with reduced life expectancy, although survival is improving. In the case of neonatal respiratory distress, mortality has been described as high as 30-40%. For patients surviving the neonatal period, about 50% will develop ESRD within the first decade of life. CHF is an important cause of morbidity and mortality.

• #78 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children/print

  Neonatal management initially focuses on stabilizing the respiratory status of patients with respiratory distress, followed by a clinical assessment confirming the diagnosis and a thorough evaluation of the neonate’s kidney status. […] For patients who survive the neonatal period, there is improvement of kidney function due to continued renal maturation. However, over time progressive deterioration of kidney function develops, which may be rapid or slow, and often results in ESKD. […] Management of patients who survive the neonatal period focuses on the care of kidney and hepatic complications, including ongoing surveillance. […] The management of patients with progressive impaired kidney function is similar to that of patients with other forms of chronic kidney disease. […] KRT is needed in patients who progress to ESKD. Kidney transplantation is the preferred KRT because there is no disease recurrence, and the outcome is excellent.

• #79 Autosomal Recessive Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd

  Working with a health care team as soon as possible can help manage these complications. […] Health care providers diagnose ARPKD with ultrasound imaging. The test can show enlarged kidneys and liver scarring. […] One or both kidneys may need to be removed if their size makes breathing impossible. […] A health care provider may treat growth failure with nutritional therapy. […] Health care providers treat infants with breathing problems with artificial ventilation, which allows them to breathe with the help of a machine. […] Peritoneal dialysis is the preferred method of treating children with kidney failure, although health care providers also use hemodialysis. […] A health care provider can help control blood pressure with medicines. Treating high blood pressure can help delay kidney failure.

• #80 Autosomal Recessive Polycystic Kidney Disease: ERKNet per i Pazienti

  https://www.erknet.org/patients/it/your-kidney-disease/arpkd/disease-information

  ARPKD is a complex and challenging condition that requires ongoing medical care and support. […] Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. Working with a health care team as soon as possible can help manage these complications. […] There is no cure for ARPKD, but treatment focuses on managing the symptoms and complications. This may include medication to control blood pressure, dietary management, and, in severe cases of kidney failure, the need for kidney transplantation. […] The prognosis for people with ARPKD varies depending on the severity of the disease and the extent of kidney and liver involvement. Some children may have relatively good kidney function and a relatively normal life expectancy with appropriate medical care, while others may face more severe challenges. Kidney replacement therapy is required in about 50% of ARPKD patients in the first two decades of life. Peritoneal dialysis has been recommended as the dialysis modality of choice early in life.

• #81

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  For young children, management should, in principle, follow standard recommendations with peritoneal dialysis as the dialysis modality of choice. […] Overall, kidney replacement therapy in neonates and infants has been shown to result in about 80% survival after two years in a large international cohort. […] The decision to start, to withhold, or to discontinue kidney replacement therapy may depend on multiple individual aspects of a patient and the family. Such a decision should be taken by the families and a multidisciplinary approach and may be supported by a formalized ethical decision-making framework. […] Concerns exist about the feasibility of peritoneal dialysis in ARPKD with enlarged kidneys. […] It is important to note that the studied cohorts were cohorts of young children with a median baseline age of 2.4 years, but that the study was not designed to compare peritoneal dialysis in the first weeks of life.

• #82 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #83 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #84

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  For young children, management should, in principle, follow standard recommendations with peritoneal dialysis as the dialysis modality of choice. […] Overall, kidney replacement therapy in neonates and infants has been shown to result in about 80% survival after two years in a large international cohort. […] The decision to start, to withhold, or to discontinue kidney replacement therapy may depend on multiple individual aspects of a patient and the family. Such a decision should be taken by the families and a multidisciplinary approach and may be supported by a formalized ethical decision-making framework. […] Concerns exist about the feasibility of peritoneal dialysis in ARPKD with enlarged kidneys. […] It is important to note that the studied cohorts were cohorts of young children with a median baseline age of 2.4 years, but that the study was not designed to compare peritoneal dialysis in the first weeks of life.

• #85

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  An important detail that could not be addressed by the IPPN study concerns nephrectomies for peritoneal dialysis in ARPKD. […] The evidence that supports potential benefits of nephrectomies is limited and needs to be weighed against the potential risks and sequelae of nephrectomies, e.g., resulting from loss of nephron mass and kidney function with a subsequent need for kidney replacement therapy. […] A recent ARegPKD study compared ARPKD children after very early bilateral nephrectomies (both nephrectomies within the first three months of life, VEBNE) with children after early bilateral nephrectomies (bilateral nephrectomies within the subsequent year), very early dialysis (start of dialysis in first three months of life), and a control group with large total kidney volume. […] A common and severe problem of ARPKD in the first few months of life is arterial hypertension that may be very severe and may require treatment with multiple drug classes.

• #86

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  For young children, management should, in principle, follow standard recommendations with peritoneal dialysis as the dialysis modality of choice. […] Overall, kidney replacement therapy in neonates and infants has been shown to result in about 80% survival after two years in a large international cohort. […] The decision to start, to withhold, or to discontinue kidney replacement therapy may depend on multiple individual aspects of a patient and the family. Such a decision should be taken by the families and a multidisciplinary approach and may be supported by a formalized ethical decision-making framework. […] Concerns exist about the feasibility of peritoneal dialysis in ARPKD with enlarged kidneys. […] It is important to note that the studied cohorts were cohorts of young children with a median baseline age of 2.4 years, but that the study was not designed to compare peritoneal dialysis in the first weeks of life.

• #87

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  For young children, management should, in principle, follow standard recommendations with peritoneal dialysis as the dialysis modality of choice. […] Overall, kidney replacement therapy in neonates and infants has been shown to result in about 80% survival after two years in a large international cohort. […] The decision to start, to withhold, or to discontinue kidney replacement therapy may depend on multiple individual aspects of a patient and the family. Such a decision should be taken by the families and a multidisciplinary approach and may be supported by a formalized ethical decision-making framework. […] Concerns exist about the feasibility of peritoneal dialysis in ARPKD with enlarged kidneys. […] It is important to note that the studied cohorts were cohorts of young children with a median baseline age of 2.4 years, but that the study was not designed to compare peritoneal dialysis in the first weeks of life.

• #88 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children/print

  Neonatal management initially focuses on stabilizing the respiratory status of patients with respiratory distress, followed by a clinical assessment confirming the diagnosis and a thorough evaluation of the neonate’s kidney status. […] For patients who survive the neonatal period, there is improvement of kidney function due to continued renal maturation. However, over time progressive deterioration of kidney function develops, which may be rapid or slow, and often results in ESKD. […] Management of patients who survive the neonatal period focuses on the care of kidney and hepatic complications, including ongoing surveillance. […] The management of patients with progressive impaired kidney function is similar to that of patients with other forms of chronic kidney disease. […] KRT is needed in patients who progress to ESKD. Kidney transplantation is the preferred KRT because there is no disease recurrence, and the outcome is excellent.

• #89 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Neonatal management initially focuses on stabilizing the respiratory status of patients with respiratory distress, followed by a clinical assessment confirming the diagnosis and a thorough evaluation of the neonate’s kidney status. […] For patients who survive the neonatal period, management focuses on the care of kidney and hepatic complications, including ongoing surveillance. […] The management of patients with progressive impaired kidney function is similar to that of patients with other forms of chronic kidney disease. […] KRT improves survival for children with ARPKD and ESKD.

• #90 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is a very severe disease. About one in three babies with confirmed ARPKD die of breathing problems within the first four weeks because their lungs do not develop properly in the womb. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #91

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function.

• #92 Autosomal Recessive Polycystic Kidney Disease: Gideon’s Story | Children’s Hospital of Philadelphia

  https://www.chop.edu/stories/autosomal-recessive-polycystic-kidney-disease-gideon-s-story

  On the day of the surgery, Dan had one of his kidneys removed at the Hospital of the University of Pennsylvania (HUP). Next door at CHOP, Gideon had both of his kidneys removed and his fathers healthy kidney implanted. […] He returns to CHOP for regular follow-up visits with his nephrology team and is being monitored by other specialists as well.

• #93

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function.

• #94 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #95 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is a very severe disease. About one in three babies with confirmed ARPKD die of breathing problems within the first four weeks because their lungs do not develop properly in the womb. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #96 Autosomal Recessive Polycystic Kidney Disease: Gideon’s Story | Children’s Hospital of Philadelphia

  https://www.chop.edu/stories/autosomal-recessive-polycystic-kidney-disease-gideon-s-story

  On the day of the surgery, Dan had one of his kidneys removed at the Hospital of the University of Pennsylvania (HUP). Next door at CHOP, Gideon had both of his kidneys removed and his fathers healthy kidney implanted. […] He returns to CHOP for regular follow-up visits with his nephrology team and is being monitored by other specialists as well.

• #97 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder primarily affecting the kidneys and liver. Clinicians should recognize early signs such as enlarged, echogenic kidneys in utero or during infancy. ARPKD most commonly results from mutations in PKHD1, causing renal cysts and congenital hepatic fibrosis early in life. About half of the patients with ARPKD develop end-stage renal failure requiring renal replacement therapy (dialysis or kidney transplantation) within the first 2 decades of life. In addition, hepatic function must be closely followed, as portal hypertension, splenomegaly, and cholangitis are common, especially in older patients. […] This course provides in-depth insights into the diverse clinical presentations, diagnostic modalities, and management strategies for this rare genetic disorder. Clinicians gain proficiency in recognizing early signs, conducting genetic testing, and implementing a comprehensive, interprofessional approach to patient care.

• #98 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #99 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #100 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #101 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #102 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #103 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #104 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #105 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #106 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #107 Polycystic Kidney Disease in Children – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/polycystic-kidney-diseases

  The liver cysts in ARPKD can cause scarring (fibrosis) in the liver, which can lead to increased pressure in the blood vessels of the liver (portal hypertension), causing blood flow to back up into vessels that surround the esophagus, stomach and intestines. Children with ARPKD who develop portal hypertension have increased risk of bleeding from these swollen blood vessels (varices), as well as an increased risk of infection in the liver cysts (cholangitis). They should be monitored and treated by a pediatric hepatologist. Liver function remains relatively normally in these children and the need for liver transplantation is rare.

• #108 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Because of the large size of the kidneys, unilateral or bilateral nephrectomy is often performed if respiratory compromise is present in the neonatal period or if failure to thrive is present because of the large, bilateral, space-occupying masses that prevent appropriate nourishment. […] Once children are in end-stage renal disease, dialysis or transplantation is the only option. Renal transplantation may be necessary in a large number of patients with ARPKD. […] With better renal care, the course of children with ARPKD is further complicated by the hepatic complications described earlier, which require specific therapy by specialists. A large number of hepatic complications require surgical management (eg, sclerotherapy for esophageal varices or portocaval and splenorenal shunt placement).

• #109 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Because of the large size of the kidneys, unilateral or bilateral nephrectomy is often performed if respiratory compromise is present in the neonatal period or if failure to thrive is present because of the large, bilateral, space-occupying masses that prevent appropriate nourishment. […] Once children are in end-stage renal disease, dialysis or transplantation is the only option. Renal transplantation may be necessary in a large number of patients with ARPKD. […] With better renal care, the course of children with ARPKD is further complicated by the hepatic complications described earlier, which require specific therapy by specialists. A large number of hepatic complications require surgical management (eg, sclerotherapy for esophageal varices or portocaval and splenorenal shunt placement).

• #110 SciELO Brazil – A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and conge

  https://www.scielo.br/j/jbn/a/Kjmw9h7JF8fjJfFHgZLJvsD/

  A 16-year-old female patient previously diagnosed with autosomal recessive polycystic kidney disease (ARPKD) presented with acute bilateral pneumonia, upper gastrointestinal bleeding caused by ruptured esophageal varices, ascites, and lower limb edema. […] She required intensive care and an endoscopic procedure to treat the gastrointestinal bleeding. […] The analysis of the differential diagnosis for chronic liver disease indicated she had a spontaneous splenorenal shunt. […] Ultrasound-guided biopsy revealed the patient had cirrhosis, as characteristically seen in individuals with ARPKD. […] She had no symptoms at discharge and was referred for review for a combined transplant. […] ARPKD occurs in approximately 1:20,000 live births. […] It may involve a number of systems and requires multidisciplinary care.

• #111

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function.

• #112 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). […] Management will depend on clinical severity, but may include: […] Stabilisation of respiratory function by mechanical ventilation. […] Neonates with oliguria or anuria may require peritoneal dialysis within the first days of life. Early recognition and treatment of dehydration and hypertension is critical. […] Treatment of biliary dysfunction focuses on malabsorption of nutrients and fat-soluble vitamins and early recognition and treatment of ascending cholangitis. Treatment includes synthetic bile acids. […] Those with end-stage renal disease and severe portal hypertension may be candidates for dual renal/liver transplantation.

• #113 Polycystic Kidney Disease in Children – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/polycystic-kidney-diseases

  The liver cysts in ARPKD can cause scarring (fibrosis) in the liver, which can lead to increased pressure in the blood vessels of the liver (portal hypertension), causing blood flow to back up into vessels that surround the esophagus, stomach and intestines. Children with ARPKD who develop portal hypertension have increased risk of bleeding from these swollen blood vessels (varices), as well as an increased risk of infection in the liver cysts (cholangitis). They should be monitored and treated by a pediatric hepatologist. Liver function remains relatively normally in these children and the need for liver transplantation is rare.

• #114 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). […] Management will depend on clinical severity, but may include: […] Stabilisation of respiratory function by mechanical ventilation. […] Neonates with oliguria or anuria may require peritoneal dialysis within the first days of life. Early recognition and treatment of dehydration and hypertension is critical. […] Treatment of biliary dysfunction focuses on malabsorption of nutrients and fat-soluble vitamins and early recognition and treatment of ascending cholangitis. Treatment includes synthetic bile acids. […] Those with end-stage renal disease and severe portal hypertension may be candidates for dual renal/liver transplantation.

• #115 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). […] Management will depend on clinical severity, but may include: […] Stabilisation of respiratory function by mechanical ventilation. […] Neonates with oliguria or anuria may require peritoneal dialysis within the first days of life. Early recognition and treatment of dehydration and hypertension is critical. […] Treatment of biliary dysfunction focuses on malabsorption of nutrients and fat-soluble vitamins and early recognition and treatment of ascending cholangitis. Treatment includes synthetic bile acids. […] Those with end-stage renal disease and severe portal hypertension may be candidates for dual renal/liver transplantation.

• #116

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There’s currently no cure for autosomal recessive polycystic kidney disease (ARPKD). […] But treatments are available to manage the condition’s associated symptoms and any complications that may occur, such as: […] An angiotensin-converting enzyme (ACE) inhibitor is the most widely used treatment for babies and children with high blood pressure. […] As well as ACE inhibitors, there are lots of other medications that may also be used to control blood pressure in children with ARPKD, such as calcium channel blockers, beta blockers and diuretics. […] If your child has particularly severe liver problems, they may need a liver transplant. […] If they also need a kidney transplant, both procedures may be combined into a single operation. […] When kidney failure occurs, your child will need to have their kidneys replaced or treatment to compensate for their loss of kidney function.

• #117

  https://link.springer.com/article/10.1007/s00467-013-2634-1

  Although liver disease in ARPKD is generally not associated with clinically significant hepatocellular dysfunction, it is essential to determine the optimum point for the patient to undergo combined liver/kidney transplantation (CLKT) or sequential transplantation of liver and kidney when complications like PH have already occurred.

• #118 Polycystic Kidney Disease in Children – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/polycystic-kidney-diseases

  The liver cysts in ARPKD can cause scarring (fibrosis) in the liver, which can lead to increased pressure in the blood vessels of the liver (portal hypertension), causing blood flow to back up into vessels that surround the esophagus, stomach and intestines. Children with ARPKD who develop portal hypertension have increased risk of bleeding from these swollen blood vessels (varices), as well as an increased risk of infection in the liver cysts (cholangitis). They should be monitored and treated by a pediatric hepatologist. Liver function remains relatively normally in these children and the need for liver transplantation is rare.

• #119 Polycystic Kidney Disease in Children – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/polycystic-kidney-diseases

  The liver cysts in ARPKD can cause scarring (fibrosis) in the liver, which can lead to increased pressure in the blood vessels of the liver (portal hypertension), causing blood flow to back up into vessels that surround the esophagus, stomach and intestines. Children with ARPKD who develop portal hypertension have increased risk of bleeding from these swollen blood vessels (varices), as well as an increased risk of infection in the liver cysts (cholangitis). They should be monitored and treated by a pediatric hepatologist. Liver function remains relatively normally in these children and the need for liver transplantation is rare.

• #120 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). […] Management will depend on clinical severity, but may include: […] Stabilisation of respiratory function by mechanical ventilation. […] Neonates with oliguria or anuria may require peritoneal dialysis within the first days of life. Early recognition and treatment of dehydration and hypertension is critical. […] Treatment of biliary dysfunction focuses on malabsorption of nutrients and fat-soluble vitamins and early recognition and treatment of ascending cholangitis. Treatment includes synthetic bile acids. […] Those with end-stage renal disease and severe portal hypertension may be candidates for dual renal/liver transplantation.

• #121

  https://link.springer.com/article/10.1007/s00467-013-2634-1

  Although liver disease in ARPKD is generally not associated with clinically significant hepatocellular dysfunction, it is essential to determine the optimum point for the patient to undergo combined liver/kidney transplantation (CLKT) or sequential transplantation of liver and kidney when complications like PH have already occurred.

• #122

  https://link.springer.com/article/10.1007/s00467-013-2634-1

  Although liver disease in ARPKD is generally not associated with clinically significant hepatocellular dysfunction, it is essential to determine the optimum point for the patient to undergo combined liver/kidney transplantation (CLKT) or sequential transplantation of liver and kidney when complications like PH have already occurred.

• #123 Autosomal Recessive Polycystic Kidney Disease: ERKNet per i Pazienti

  https://www.erknet.org/patients/it/your-kidney-disease/arpkd/disease-information

  ARPKD is a complex and challenging condition that requires ongoing medical care and support. […] Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. Working with a health care team as soon as possible can help manage these complications. […] There is no cure for ARPKD, but treatment focuses on managing the symptoms and complications. This may include medication to control blood pressure, dietary management, and, in severe cases of kidney failure, the need for kidney transplantation. […] The prognosis for people with ARPKD varies depending on the severity of the disease and the extent of kidney and liver involvement. Some children may have relatively good kidney function and a relatively normal life expectancy with appropriate medical care, while others may face more severe challenges. Kidney replacement therapy is required in about 50% of ARPKD patients in the first two decades of life. Peritoneal dialysis has been recommended as the dialysis modality of choice early in life.

• #124

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  The underlying pathophysiology resulting in the partly massive hypertension in ARPKD is not well understood, but dysregulation of renal sodium and volume handling with impaired urinary dilution and an activation of the renin-angiotensin system have been suggested. […] Failure to thrive is a general concern in children with early-onset CKD but may pose a specific challenge in children with ARPKD. […] It is obvious that families of severely affected children will greatly benefit from specific nutritional consulting. Furthermore, the value of psychosocial support can hardly be overestimated for families of children with such an early-onset chronic kidney disease.

• #125

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  The underlying pathophysiology resulting in the partly massive hypertension in ARPKD is not well understood, but dysregulation of renal sodium and volume handling with impaired urinary dilution and an activation of the renin-angiotensin system have been suggested. […] Failure to thrive is a general concern in children with early-onset CKD but may pose a specific challenge in children with ARPKD. […] It is obvious that families of severely affected children will greatly benefit from specific nutritional consulting. Furthermore, the value of psychosocial support can hardly be overestimated for families of children with such an early-onset chronic kidney disease.

• #126 Polycystic Kidney Disease | UCSF Melanoma Surgery

  https://melanomasurgery.ucsf.edu/condition/polycystic-kidney-disease

  Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb. […] The signs of autosomal recessive PKD frequently begin before birth, so it is often called „infantile PKD.” Children born with autosomal recessive PKD often, but not always, develop kidney failure before reaching adulthood. […] Medicines can control high blood pressure in autosomal recessive PKD, and antibiotics can control urinary tract infections. Eating increased amounts of nutritious food improves growth in children with autosomal recessive PKD. In some cases, growth hormones are used. In response to kidney failure, autosomal recessive PKD patients must receive dialysis or transplantation. If serious liver disease develops, some people can undergo combined liver and kidney transplantation.

• #127 Autosomal recessive polycystic kidney disease, PKHD1-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/autosomal-recessive-polycystic-kidney-disease-pkhd1-related/

  The initial concern with infants who have ARPKD is to protect their ability to breathe. Stabilizing respiratory function through mechanical ventilation may be required. Eating a nutritious diet can aid growth, and in some cases, growth hormones are recommended. Infants and children may require feeding tubes in order to ensure proper growth. […] If faced with kidney failure, people with ARPKD frequently undergo dialysis (a “cleansing” of the blood through a machine that removes waste) or kidney transplantation. If the liver is extremely damaged, transplantation of this organ may also be recommended. Some individuals with ARPKD must undergo dialysis or kidney transplantation in infancy. Treatments to minimize dehydration and medications to lower blood pressure and to treat urinary tract infections may also be necessary.

• #128 Autosomal recessive polycystic kidney disease, PKHD1-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/autosomal-recessive-polycystic-kidney-disease-pkhd1-related/

  The initial concern with infants who have ARPKD is to protect their ability to breathe. Stabilizing respiratory function through mechanical ventilation may be required. Eating a nutritious diet can aid growth, and in some cases, growth hormones are recommended. Infants and children may require feeding tubes in order to ensure proper growth. […] If faced with kidney failure, people with ARPKD frequently undergo dialysis (a “cleansing” of the blood through a machine that removes waste) or kidney transplantation. If the liver is extremely damaged, transplantation of this organ may also be recommended. Some individuals with ARPKD must undergo dialysis or kidney transplantation in infancy. Treatments to minimize dehydration and medications to lower blood pressure and to treat urinary tract infections may also be necessary.

• #129 Polycystic Kidney Disease | UCSF Melanoma Surgery

  https://melanomasurgery.ucsf.edu/condition/polycystic-kidney-disease

  Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb. […] The signs of autosomal recessive PKD frequently begin before birth, so it is often called „infantile PKD.” Children born with autosomal recessive PKD often, but not always, develop kidney failure before reaching adulthood. […] Medicines can control high blood pressure in autosomal recessive PKD, and antibiotics can control urinary tract infections. Eating increased amounts of nutritious food improves growth in children with autosomal recessive PKD. In some cases, growth hormones are used. In response to kidney failure, autosomal recessive PKD patients must receive dialysis or transplantation. If serious liver disease develops, some people can undergo combined liver and kidney transplantation.

• #130 Polycystic Kidney Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/polycystic-kidney-disease

  Autosomal recessive PKD is a rare, inherited form of polycystic kidney disease thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes autosomal dominant PKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their child. Carrier parents have a 25 percent chance with each pregnancy to have a child with this type of PKD. Males and females are equally affected. Autosomal recessive PKD is sometimes detected prenatally (before birth) using a fetal ultrasound. […] Symptoms of autosomal recessive PKD can begin before birth. In most cases, the earlier the onset, the more severe the outcome. […] Children born with autosomal recessive PKD may develop kidney failure within a few years and often experience the following: High blood pressure, Urinary tract infections, Frequent urination.

• #131 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #132 Polycystic Kidney Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/polycystic-kidney-disease

  Your child’s doctor will establish a treatment protocol for autosomal recessive PKD only after careful consideration of the child’s symptoms and medical profile. Treatment may include: Treatment for high blood pressure, Treatment for urinary tract infections, Hormonal therapy, Dialysis, Kidney transplantation.

• #133 Polycystic Kidney Disease | UCSF Melanoma Surgery

  https://melanomasurgery.ucsf.edu/condition/polycystic-kidney-disease

  Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb. […] The signs of autosomal recessive PKD frequently begin before birth, so it is often called „infantile PKD.” Children born with autosomal recessive PKD often, but not always, develop kidney failure before reaching adulthood. […] Medicines can control high blood pressure in autosomal recessive PKD, and antibiotics can control urinary tract infections. Eating increased amounts of nutritious food improves growth in children with autosomal recessive PKD. In some cases, growth hormones are used. In response to kidney failure, autosomal recessive PKD patients must receive dialysis or transplantation. If serious liver disease develops, some people can undergo combined liver and kidney transplantation.

• #134

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys and kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure. […] If your child has ARPKD, their kidneys will be vulnerable to injury. […] Your child may therefore be advised to avoid playing contact sports, such as football and rugby. […] Make sure you check with your doctor before giving your child any new medication.

• #135

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys and kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure. […] If your child has ARPKD, their kidneys will be vulnerable to injury. […] Your child may therefore be advised to avoid playing contact sports, such as football and rugby. […] Make sure you check with your doctor before giving your child any new medication.

• #136 Polycystic Kidney Disease condition | Children’s Wisconsin

  https://childrenswi.org/medical-care/nephrology/conditions/polycystic-kidney-disease

  Specific guidelines on the use of medications which may adversely affect disease progression Guidelines on participation in athletics, including the use of kidney shields […] Education; including regular updates of new disease-specific therapies now in clinical trials […] In rare instances: pain medication, or surgical decompression of enlarged kidney cysts […] Renal replacement therapies- Dialysis, Kidney transplantation.

• #137 Polycystic Kidney Disease condition | Children’s Wisconsin

  https://childrenswi.org/medical-care/nephrology/conditions/polycystic-kidney-disease

  Specific guidelines on the use of medications which may adversely affect disease progression Guidelines on participation in athletics, including the use of kidney shields […] Education; including regular updates of new disease-specific therapies now in clinical trials […] In rare instances: pain medication, or surgical decompression of enlarged kidney cysts […] Renal replacement therapies- Dialysis, Kidney transplantation.

• #138

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  The underlying pathophysiology resulting in the partly massive hypertension in ARPKD is not well understood, but dysregulation of renal sodium and volume handling with impaired urinary dilution and an activation of the renin-angiotensin system have been suggested. […] Failure to thrive is a general concern in children with early-onset CKD but may pose a specific challenge in children with ARPKD. […] It is obvious that families of severely affected children will greatly benefit from specific nutritional consulting. Furthermore, the value of psychosocial support can hardly be overestimated for families of children with such an early-onset chronic kidney disease.

• #139 Polycystic Kidney Disease Diagnosis & Treatments NYC | Mount Sinai – New York

  https://www.mountsinai.org/care/nephrology/services/polycystic-kidney-disease

  Mount Sinai nephrologists and collaborating specialists employ a full range of medical and support services throughout the courses of your treatment. We pride ourselves in caring for our PKD patients with: […] Genetic counseling. Our genetics department specializes in evaluating and counseling you and your family with a history of PKD. […] Transplantation. We work closely with our transplant team and may suggest that you get an evaluation for a kidney transplant. Our Recanati/Miller Transplantation Institute surgeons and physicians, along with specialized nurses and social workers, coordinate care before and after kidney transplantation.

• #140

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  The underlying pathophysiology resulting in the partly massive hypertension in ARPKD is not well understood, but dysregulation of renal sodium and volume handling with impaired urinary dilution and an activation of the renin-angiotensin system have been suggested. […] Failure to thrive is a general concern in children with early-onset CKD but may pose a specific challenge in children with ARPKD. […] It is obvious that families of severely affected children will greatly benefit from specific nutritional consulting. Furthermore, the value of psychosocial support can hardly be overestimated for families of children with such an early-onset chronic kidney disease.

• #141 Polycystic Kidney Disease condition | Children’s Wisconsin

  https://childrenswi.org/medical-care/nephrology/conditions/polycystic-kidney-disease

  Specific guidelines on the use of medications which may adversely affect disease progression Guidelines on participation in athletics, including the use of kidney shields […] Education; including regular updates of new disease-specific therapies now in clinical trials […] In rare instances: pain medication, or surgical decompression of enlarged kidney cysts […] Renal replacement therapies- Dialysis, Kidney transplantation.

• #142

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  For young children, management should, in principle, follow standard recommendations with peritoneal dialysis as the dialysis modality of choice. […] Overall, kidney replacement therapy in neonates and infants has been shown to result in about 80% survival after two years in a large international cohort. […] The decision to start, to withhold, or to discontinue kidney replacement therapy may depend on multiple individual aspects of a patient and the family. Such a decision should be taken by the families and a multidisciplinary approach and may be supported by a formalized ethical decision-making framework. […] Concerns exist about the feasibility of peritoneal dialysis in ARPKD with enlarged kidneys. […] It is important to note that the studied cohorts were cohorts of young children with a median baseline age of 2.4 years, but that the study was not designed to compare peritoneal dialysis in the first weeks of life.

• #143 Autosomal Recessive Polycystic Kidney Disease: ERKNet per i Pazienti

  https://www.erknet.org/patients/it/your-kidney-disease/arpkd/disease-information

  ARPKD is a complex and challenging condition that requires ongoing medical care and support. […] Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. Working with a health care team as soon as possible can help manage these complications. […] There is no cure for ARPKD, but treatment focuses on managing the symptoms and complications. This may include medication to control blood pressure, dietary management, and, in severe cases of kidney failure, the need for kidney transplantation. […] The prognosis for people with ARPKD varies depending on the severity of the disease and the extent of kidney and liver involvement. Some children may have relatively good kidney function and a relatively normal life expectancy with appropriate medical care, while others may face more severe challenges. Kidney replacement therapy is required in about 50% of ARPKD patients in the first two decades of life. Peritoneal dialysis has been recommended as the dialysis modality of choice early in life.

• #144 Polycystic Kidney Disease (PKD) Symptoms, Treatments & Causes – American Kidney Fund (AKF)

  https://www.kidneyfund.org/all-about-kidneys/types-kidney-diseases/polycystic-kidney-disease

  Autosomal recessive PKD (ARPKD) is a much less common type of PKD. ARPKD causes cysts to grow in your kidneys. Like ADPKD, ARPKD can also affect the liver. […] ARPKD is caused by a change in a specific gene called PKHD1 that is passed down from both parents to their children. Both parents need to be carriers of the changed PKHD1 gene for their child to be born with ARPKD. A carrier is someone who has the changed gene but does not have the disease. It usually does not affect every generation of a family. […] There is no cure for ARPKD. Doctors can recommend strategies to help manage the symptoms and health problems that ARPKD causes. Management strategies may include: […] You can also ask your doctor if there are any clinical trials studying treatments for ARPKD that you or your child could take part in.

• #145 New Modeling System May Advance Care for Autosomal Recessive Polycystic Kidney Disease

  https://www.pharmacytimes.com/view/new-modeling-system-may-advance-care-for-autosomal-recessive-polycystic-kidney-disease

  The researchers tested 2 FDA-approved drugs, R-Naproxen and R-Ketorolact, that inhibit RAC-1, as well as an investigational new drug, T-5224, which inhibits FOS. These treatments were found to have therapeutic efficacy in these models, according to the study. […] The researchers said that clinical trials will now be required to evaluate the drugs in patients with ARPKD. The modeling system may also enable additional studies to identify more potential treatment targets. […] In validation of our findings, FDA-approved NSAIDS that inhibit RAC1 as well as a clinically tested inhibitor of FOS are shown to have therapeutic effects in our model. Our observations highlight the vast potential of organoid-on-a-chip models to elucidate complex disease mechanisms for therapeutic testing and discovery, Morizane added.

• #146 New Modeling System May Advance Care for Autosomal Recessive Polycystic Kidney Disease

  https://www.pharmacytimes.com/view/new-modeling-system-may-advance-care-for-autosomal-recessive-polycystic-kidney-disease

  The researchers tested 2 FDA-approved drugs, R-Naproxen and R-Ketorolact, that inhibit RAC-1, as well as an investigational new drug, T-5224, which inhibits FOS. These treatments were found to have therapeutic efficacy in these models, according to the study. […] The researchers said that clinical trials will now be required to evaluate the drugs in patients with ARPKD. The modeling system may also enable additional studies to identify more potential treatment targets. […] In validation of our findings, FDA-approved NSAIDS that inhibit RAC1 as well as a clinically tested inhibitor of FOS are shown to have therapeutic effects in our model. Our observations highlight the vast potential of organoid-on-a-chip models to elucidate complex disease mechanisms for therapeutic testing and discovery, Morizane added.

• #147 New Modeling System May Advance Care for Autosomal Recessive Polycystic Kidney Disease

  https://www.pharmacytimes.com/view/new-modeling-system-may-advance-care-for-autosomal-recessive-polycystic-kidney-disease

  Innovative system reveals a pair of potential therapies for autosomal recessive polycystic kidney disease, which currently has no FDA-approved treatments. […] An innovative new modeling system may advance the care of patients with autosomal recessive polycystic kidney disease (APRKD), according to a study published in Science Advances. […] The investigative team, led by Ken Hiratsuka, MD, PhD, and Ryuji Morizane, MD, PhD, found that the new modeling system identified a pair of potential therapies for APRKD, which currently has no treatments that have been approved by the FDA. […] In this study, we showed that our kidney organoids on a chip platform provides a physiologically relevant model for ARPKD, allowing the identification of mechanosensing signals as key drivers of cystogenesis, Morizane said in a press release.

• #148 New Modeling System May Advance Care for Autosomal Recessive Polycystic Kidney Disease

  https://www.pharmacytimes.com/view/new-modeling-system-may-advance-care-for-autosomal-recessive-polycystic-kidney-disease

  The researchers tested 2 FDA-approved drugs, R-Naproxen and R-Ketorolact, that inhibit RAC-1, as well as an investigational new drug, T-5224, which inhibits FOS. These treatments were found to have therapeutic efficacy in these models, according to the study. […] The researchers said that clinical trials will now be required to evaluate the drugs in patients with ARPKD. The modeling system may also enable additional studies to identify more potential treatment targets. […] In validation of our findings, FDA-approved NSAIDS that inhibit RAC1 as well as a clinically tested inhibitor of FOS are shown to have therapeutic effects in our model. Our observations highlight the vast potential of organoid-on-a-chip models to elucidate complex disease mechanisms for therapeutic testing and discovery, Morizane added.

• #149 New Modeling System May Advance Care for Autosomal Recessive Polycystic Kidney Disease

  https://www.pharmacytimes.com/view/new-modeling-system-may-advance-care-for-autosomal-recessive-polycystic-kidney-disease

  The researchers tested 2 FDA-approved drugs, R-Naproxen and R-Ketorolact, that inhibit RAC-1, as well as an investigational new drug, T-5224, which inhibits FOS. These treatments were found to have therapeutic efficacy in these models, according to the study. […] The researchers said that clinical trials will now be required to evaluate the drugs in patients with ARPKD. The modeling system may also enable additional studies to identify more potential treatment targets. […] In validation of our findings, FDA-approved NSAIDS that inhibit RAC1 as well as a clinically tested inhibitor of FOS are shown to have therapeutic effects in our model. Our observations highlight the vast potential of organoid-on-a-chip models to elucidate complex disease mechanisms for therapeutic testing and discovery, Morizane added.

• #150 Polycystic Kidney Disease (PKD) Symptoms, Treatments & Causes – American Kidney Fund (AKF)

  https://www.kidneyfund.org/all-about-kidneys/types-kidney-diseases/polycystic-kidney-disease

  Autosomal recessive PKD (ARPKD) is a much less common type of PKD. ARPKD causes cysts to grow in your kidneys. Like ADPKD, ARPKD can also affect the liver. […] ARPKD is caused by a change in a specific gene called PKHD1 that is passed down from both parents to their children. Both parents need to be carriers of the changed PKHD1 gene for their child to be born with ARPKD. A carrier is someone who has the changed gene but does not have the disease. It usually does not affect every generation of a family. […] There is no cure for ARPKD. Doctors can recommend strategies to help manage the symptoms and health problems that ARPKD causes. Management strategies may include: […] You can also ask your doctor if there are any clinical trials studying treatments for ARPKD that you or your child could take part in.

• #151 Autosomal Recessive Polycystic Kidney Disease: ERKNet per i Pazienti

  https://www.erknet.org/patients/it/your-kidney-disease/arpkd/disease-information

  ARPKD is a complex and challenging condition that requires ongoing medical care and support. […] Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. Working with a health care team as soon as possible can help manage these complications. […] There is no cure for ARPKD, but treatment focuses on managing the symptoms and complications. This may include medication to control blood pressure, dietary management, and, in severe cases of kidney failure, the need for kidney transplantation. […] The prognosis for people with ARPKD varies depending on the severity of the disease and the extent of kidney and liver involvement. Some children may have relatively good kidney function and a relatively normal life expectancy with appropriate medical care, while others may face more severe challenges. Kidney replacement therapy is required in about 50% of ARPKD patients in the first two decades of life. Peritoneal dialysis has been recommended as the dialysis modality of choice early in life.

• #152 Polycystic Kidney Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/polycystic-kidney-disease

  Autosomal recessive PKD is a rare, inherited form of polycystic kidney disease thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes autosomal dominant PKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their child. Carrier parents have a 25 percent chance with each pregnancy to have a child with this type of PKD. Males and females are equally affected. Autosomal recessive PKD is sometimes detected prenatally (before birth) using a fetal ultrasound. […] Symptoms of autosomal recessive PKD can begin before birth. In most cases, the earlier the onset, the more severe the outcome. […] Children born with autosomal recessive PKD may develop kidney failure within a few years and often experience the following: High blood pressure, Urinary tract infections, Frequent urination.

• #153 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/urinary-tract/autosomal-recessive-polycystic-kidneys

  Investigations: […] Detailed ultrasound examination. Genetic testing: the disease is caused by mutations in the PKHD1 gene on chromosome 6p21. Prenatal diagnosis in families at risk can be carried out by first-trimester chorion villous sampling (reliable prenatal diagnosis in 80% of affected families). […] Follow up: […] Ultrasound scans every 4 weeks to monitor growth and assess amniotic fluid volume. […] Delivery: […] Place: hospital with neonatal intensive care. Time: 38 weeks. Method: induction of labor aiming for vaginal delivery. […] Prognosis: […] The prenatal type is lethal either in utero or in the neonatal period due to pulmonary hypoplasia. The infantile and juvenile types result in chronic renal failure, hepatic fibrosis and portal hypertension; many cases survive into their teens and require renal transplant. […] Recurrence: […] Risk of recurrence: 25%.

• #154 Orphanet: Autosomal recessive polycystic kidney disease

  https://www.orpha.net/en/disease/detail/731

  The disease is associated with reduced life expectancy, although survival is improving. In the case of neonatal respiratory distress, mortality has been described as high as 30-40%. For patients surviving the neonatal period, about 50% will develop ESRD within the first decade of life. CHF is an important cause of morbidity and mortality.

• #155 Orphanet: Autosomal recessive polycystic kidney disease

  https://www.orpha.net/en/disease/detail/731

  The disease is associated with reduced life expectancy, although survival is improving. In the case of neonatal respiratory distress, mortality has been described as high as 30-40%. For patients surviving the neonatal period, about 50% will develop ESRD within the first decade of life. CHF is an important cause of morbidity and mortality.

• #156 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is a very severe disease. About one in three babies with confirmed ARPKD die of breathing problems within the first four weeks because their lungs do not develop properly in the womb. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #157 Orphanet: Autosomal recessive polycystic kidney disease

  https://www.orpha.net/en/disease/detail/731

  The disease is associated with reduced life expectancy, although survival is improving. In the case of neonatal respiratory distress, mortality has been described as high as 30-40%. For patients surviving the neonatal period, about 50% will develop ESRD within the first decade of life. CHF is an important cause of morbidity and mortality.

• #158 Autosomal Recessive Polycystic Kidney Disease: ERKNet per i Pazienti

  https://www.erknet.org/patients/it/your-kidney-disease/arpkd/disease-information

  ARPKD is a complex and challenging condition that requires ongoing medical care and support. […] Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. Working with a health care team as soon as possible can help manage these complications. […] There is no cure for ARPKD, but treatment focuses on managing the symptoms and complications. This may include medication to control blood pressure, dietary management, and, in severe cases of kidney failure, the need for kidney transplantation. […] The prognosis for people with ARPKD varies depending on the severity of the disease and the extent of kidney and liver involvement. Some children may have relatively good kidney function and a relatively normal life expectancy with appropriate medical care, while others may face more severe challenges. Kidney replacement therapy is required in about 50% of ARPKD patients in the first two decades of life. Peritoneal dialysis has been recommended as the dialysis modality of choice early in life.

• #159 Autosomal Recessive Polycystic Kidney Disease: ERKNet per i Pazienti

  https://www.erknet.org/patients/it/your-kidney-disease/arpkd/disease-information

  ARPKD is a complex and challenging condition that requires ongoing medical care and support. […] Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. Working with a health care team as soon as possible can help manage these complications. […] There is no cure for ARPKD, but treatment focuses on managing the symptoms and complications. This may include medication to control blood pressure, dietary management, and, in severe cases of kidney failure, the need for kidney transplantation. […] The prognosis for people with ARPKD varies depending on the severity of the disease and the extent of kidney and liver involvement. Some children may have relatively good kidney function and a relatively normal life expectancy with appropriate medical care, while others may face more severe challenges. Kidney replacement therapy is required in about 50% of ARPKD patients in the first two decades of life. Peritoneal dialysis has been recommended as the dialysis modality of choice early in life.

• #160 CE Activity | Autosomal Recessive Polycystic Kidney Disease | Nurses

  https://www.statpearls.com/nurse/ce/activity/100961/?specialty=Nurse-Neonatal%20Transport%20C-NPT

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder primarily affecting the kidneys and liver. Clinicians should recognize early signs such as enlarged, echogenic kidneys in utero or during infancy. ARPKD most commonly results from mutations in PKHD1, causing renal cysts and congenital hepatic fibrosis early in life. About half of the patients with ARPKD develop end-stage renal failure requiring renal replacement therapy (dialysis or kidney transplantation) within the first 2 decades of life. In addition, hepatic function must be closely followed, as portal hypertension, splenomegaly, and cholangitis are common, especially in older patients. […] This course provides in-depth insights into the diverse clinical presentations, diagnostic modalities, and management strategies for this rare genetic disorder. Clinicians gain proficiency in recognizing early signs, conducting genetic testing, and implementing a comprehensive, interprofessional approach to patient care.

• #161 CE Activity | Autosomal Recessive Polycystic Kidney Disease | Nurses

  https://www.statpearls.com/nurse/ce/activity/100961/?specialty=Nurse-Neonatal%20Transport%20C-NPT

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects.

• #162 Autosomal recessive polycystic kidney disease in children – UpToDate

  https://www.uptodate.com/contents/autosomal-recessive-polycystic-kidney-disease-in-children

  Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis. […] The management of ARPKD consists of supportive therapy, as there is no curative intervention. Treatment is provided by a multidisciplinary team consisting of perinatologists, neonatologists, nephrologists, hepatologists, and geneticists that coordinate care from the perinatal period to adulthood. […] Once a presumptive prenatal diagnosis of ARPKD is made, ultrasound monitoring every two to three weeks is suggested to monitor kidney size and amniotic fluid volume.

• #163 Autosomal Recessive Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that affects 1 in 20,000 children. A fetus or baby with ARPKD has fluid-filled kidney cysts that may make the kidneys too big, or enlarged. ARPKD can cause a child to have poor kidney function, even in the womb. […] Poor kidney function can cause breathing problems that can threaten the life of a fetus or baby. […] However, children or young adults with ARPKD will likely need medical treatment their whole life. […] Getting good prenatal care is important for increasing a childs survival rate. Working with a health care team as soon as possible can help parents manage their childs PKD. […] The early signs of ARPKD often appear during the first few months of life and in the womb. […] A health care provider can see enlarged kidneys in a fetus or an infant using ultrasound imaging, also called a sonogram.

• #164 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #165

  https://111.wales.nhs.uk/kidneydisease,autosomalrecessivepolycystic/

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited childhood condition where the development of the kidneys and liver is abnormal. Over time, either one of these organs may fail. […] Treatment for ARPKD may include: breathing assistance with a machine that moves air in and out of the lungs (a ventilator) for children with severe breathing difficulties, medication to treat high blood pressure, procedures to stop any internal bleeding that may occur, medications to control problems associated with the loss of kidney function, such as iron supplements for anaemia. […] Most children with ARPKD will develop kidney failure by the time they’re 15 to 20 years old. They’ll need either a kidney transplant or dialysis (where a machine is used to replicate many of the functions of the kidneys).

• #166 Autosomal recessive polycystic kidney disease, PKHD1-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/autosomal-recessive-polycystic-kidney-disease-pkhd1-related/

  The initial concern with infants who have ARPKD is to protect their ability to breathe. Stabilizing respiratory function through mechanical ventilation may be required. Eating a nutritious diet can aid growth, and in some cases, growth hormones are recommended. Infants and children may require feeding tubes in order to ensure proper growth. […] If faced with kidney failure, people with ARPKD frequently undergo dialysis (a “cleansing” of the blood through a machine that removes waste) or kidney transplantation. If the liver is extremely damaged, transplantation of this organ may also be recommended. Some individuals with ARPKD must undergo dialysis or kidney transplantation in infancy. Treatments to minimize dehydration and medications to lower blood pressure and to treat urinary tract infections may also be necessary.

• #167

  https://111.wales.nhs.uk/kidneydisease,autosomalrecessivepolycystic/

  If your child has high blood pressure, they’ll usually need to take medication to lower it and prevent long-term damage to their heart and blood vessels. […] If your child’s condition progresses to a stage where their kidney function is significantly affected, they’ll usually need a number of different treatments to manage the various problems this can cause.

• #168 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #169 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #170 Autosomal Recessive Polycystic Kidney Disease | Doctor

  https://patient.info/doctor/autosomal-recessive-polycystic-kidney-disease

  Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] Hepatobiliary dysfunction leading to portal hypertension is monitored by physical examination evaluating for hepatosplenomegaly, regular platelet count, in addition to serum albumin levels, clotting studies, and 25-OH vitamin D, vitamin E levels, and fat-soluble vitamin levels. […] Periodic ultrasound and referral to a hepatologist if hepatomegaly and/or splenomegaly develops. […] Periodic endoscopy to detect oesophageal varices. […] Consideration of MR cholangiography, a more sensitive measurement for biliary ectasia, at baseline and then as indicated.

• #171 Autosomal Recessive Polycystic Kidney Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537137/

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects. […] Perinatal management depends on the severity of the clinical manifestations and the organs involved. This involves monitoring respiratory function, renal function tests, liver function tests, infant growth evaluation, blood pressure monitoring, and symptomatic treatment. […] Patients with significant renal failure may also require iron and erythropoietin therapy for the management of anemia, calcium and vitamin D supplements for bone health, phosphate binders for hyperphosphatemia, sodium bicarbonate or potassium citrate for metabolic acidosis, and medical parathyroid hormone suppression with a calcimimetic agent. […] ARPKD necessitates a collaborative approach among healthcare professionals to ensure patient-centered care and improve overall outcomes.

• #172 Autosomal recessive polycystic kidney disease (ARPKD) | Kidney Care UK

  https://kidneycareuk.org/kidney-disease-information/kidney-conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/

  ARPKD is a very severe disease. About one in three babies with confirmed ARPKD die of breathing problems within the first four weeks because their lungs do not develop properly in the womb. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] Treatment therefore aims to manage the symptoms and should be led by a specialist team with expertise in ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. Mild kidney problems may be able to be treated by diet adjustments and blood pressure medication. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] ARPKD does not reoccur after transplant and children can usually live a normal, active life.

• #173

  https://link.springer.com/article/10.1007/s00467-021-04970-8

  The underlying pathophysiology resulting in the partly massive hypertension in ARPKD is not well understood, but dysregulation of renal sodium and volume handling with impaired urinary dilution and an activation of the renin-angiotensin system have been suggested. […] Failure to thrive is a general concern in children with early-onset CKD but may pose a specific challenge in children with ARPKD. […] It is obvious that families of severely affected children will greatly benefit from specific nutritional consulting. Furthermore, the value of psychosocial support can hardly be overestimated for families of children with such an early-onset chronic kidney disease.

• #174 Polycystic Kidney Disease | The University of Kansas Health System

  https://www.kansashealthsystem.com/care/conditions/polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare form of PKD that affects approximately 1 in 20,000 children. Complications related to ARPKD can cause death in the first month of life. One-third of children who survive the newborn period will need dialysis or a kidney transplant by age 10. […] PKD treatment typically includes a combination of therapies, including lifestyle changes, medications and cyst removal. Management of associated conditions like hypertension and urinary tract infections along with dialysis or kidney transplant are also part of PKD treatment. […] Our multidisciplinary dialysis team includes physicians, registered nurses, dietitians and social workers to provide education and support, and to help you manage your condition and maximize your quality of life.

• #175 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #176 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #177 Polycystic Kidney Disease | The University of Kansas Health System

  https://www.kansashealthsystem.com/care/conditions/polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare form of PKD that affects approximately 1 in 20,000 children. Complications related to ARPKD can cause death in the first month of life. One-third of children who survive the newborn period will need dialysis or a kidney transplant by age 10. […] PKD treatment typically includes a combination of therapies, including lifestyle changes, medications and cyst removal. Management of associated conditions like hypertension and urinary tract infections along with dialysis or kidney transplant are also part of PKD treatment. […] Our multidisciplinary dialysis team includes physicians, registered nurses, dietitians and social workers to provide education and support, and to help you manage your condition and maximize your quality of life.

• #178 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #179 Polycystic Kidney Disease Diagnosis & Treatments NYC | Mount Sinai – New York

  https://www.mountsinai.org/care/nephrology/services/polycystic-kidney-disease

  Mount Sinai nephrologists and collaborating specialists employ a full range of medical and support services throughout the courses of your treatment. We pride ourselves in caring for our PKD patients with: […] Genetic counseling. Our genetics department specializes in evaluating and counseling you and your family with a history of PKD. […] Transplantation. We work closely with our transplant team and may suggest that you get an evaluation for a kidney transplant. Our Recanati/Miller Transplantation Institute surgeons and physicians, along with specialized nurses and social workers, coordinate care before and after kidney transplantation.

• #180 Autosomal Recessive Polycystic Kidney Disease: Gideon’s Story | Children’s Hospital of Philadelphia

  https://www.chop.edu/stories/autosomal-recessive-polycystic-kidney-disease-gideon-s-story

  On the day of the surgery, Dan had one of his kidneys removed at the Hospital of the University of Pennsylvania (HUP). Next door at CHOP, Gideon had both of his kidneys removed and his fathers healthy kidney implanted. […] He returns to CHOP for regular follow-up visits with his nephrology team and is being monitored by other specialists as well.

• #181 Autosomal Recessive Polycystic Kidney Disease: Gideon’s Story | Children’s Hospital of Philadelphia

  https://www.chop.edu/stories/autosomal-recessive-polycystic-kidney-disease-gideon-s-story

  On the day of the surgery, Dan had one of his kidneys removed at the Hospital of the University of Pennsylvania (HUP). Next door at CHOP, Gideon had both of his kidneys removed and his fathers healthy kidney implanted. […] He returns to CHOP for regular follow-up visits with his nephrology team and is being monitored by other specialists as well.

• #182 Polycystic Kidney Disease Diagnosis & Treatments NYC | Mount Sinai – New York

  https://www.mountsinai.org/care/nephrology/services/polycystic-kidney-disease

  Mount Sinai nephrologists and collaborating specialists employ a full range of medical and support services throughout the courses of your treatment. We pride ourselves in caring for our PKD patients with: […] Genetic counseling. Our genetics department specializes in evaluating and counseling you and your family with a history of PKD. […] Transplantation. We work closely with our transplant team and may suggest that you get an evaluation for a kidney transplant. Our Recanati/Miller Transplantation Institute surgeons and physicians, along with specialized nurses and social workers, coordinate care before and after kidney transplantation.

• #183 Autosomal Recessive Polycystic Kidney Disease: Gideon’s Story | Children’s Hospital of Philadelphia

  https://www.chop.edu/stories/autosomal-recessive-polycystic-kidney-disease-gideon-s-story

  On the day of the surgery, Dan had one of his kidneys removed at the Hospital of the University of Pennsylvania (HUP). Next door at CHOP, Gideon had both of his kidneys removed and his fathers healthy kidney implanted. […] He returns to CHOP for regular follow-up visits with his nephrology team and is being monitored by other specialists as well.

• #184 Autosomal Recessive Polycystic Kidney Disease – NIDDK

  https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd

  Working with a health care team as soon as possible can help manage these complications. […] Health care providers diagnose ARPKD with ultrasound imaging. The test can show enlarged kidneys and liver scarring. […] One or both kidneys may need to be removed if their size makes breathing impossible. […] A health care provider may treat growth failure with nutritional therapy. […] Health care providers treat infants with breathing problems with artificial ventilation, which allows them to breathe with the help of a machine. […] Peritoneal dialysis is the preferred method of treating children with kidney failure, although health care providers also use hemodialysis. […] A health care provider can help control blood pressure with medicines. Treating high blood pressure can help delay kidney failure.

• #185 Polycystic Kidney Disease (PKD): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/5791-polycystic-kidney-disease

  ARPKD is a rare form of PKD, also called infantile PKD. It causes abnormal kidney development during fetal development. Healthcare providers most often diagnose this type in a fetus during pregnancy or shortly after a baby is born. To get this type of PKD, both biological parents must have and pass along the PKHD1 gene mutation to their child. […] Signs of autosomal recessive polycystic kidney disease (ARPKD) include low birth weight, swollen abdomen, high blood pressure at birth, and breathing problems. […] ARPKD can be fatal in babies who are born with a severe case of the disease. The first month of life is critical for babies born with ARKPD. […] Theres no cure for PKD. The goal of treatment is to slow the progression of the disease and control the symptoms it causes. […] A healthcare provider may also recommend genetic testing. A blood or saliva test can check for the mutated genes that cause PKD. […] Living a healthy lifestyle can go a long way in managing PKD. Some tips for healthy living include: Eat a kidney-friendly diet. A dietitian can talk to you about which foods to avoid. […] It’s important to work with your provider and follow their instructions to manage the condition.

• #186

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys and kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure. […] If your child has ARPKD, their kidneys will be vulnerable to injury. […] Your child may therefore be advised to avoid playing contact sports, such as football and rugby. […] Make sure you check with your doctor before giving your child any new medication.

• #187

  https://www.nhs.uk/conditions/autosomal-recessive-polycystic-kidney-disease-arpkd/treatment/

  There are currently 2 effective treatments that can be used on a long-term basis: dialysis where a machine replicates many functions of the kidneys and kidney transplant where a kidney is removed from a living or recently deceased donor and implanted into a person with kidney failure. […] If your child has ARPKD, their kidneys will be vulnerable to injury. […] Your child may therefore be advised to avoid playing contact sports, such as football and rugby. […] Make sure you check with your doctor before giving your child any new medication.

• #188 Polycystic Kidney Disease (PKD): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/5791-polycystic-kidney-disease

  ARPKD is a rare form of PKD, also called infantile PKD. It causes abnormal kidney development during fetal development. Healthcare providers most often diagnose this type in a fetus during pregnancy or shortly after a baby is born. To get this type of PKD, both biological parents must have and pass along the PKHD1 gene mutation to their child. […] Signs of autosomal recessive polycystic kidney disease (ARPKD) include low birth weight, swollen abdomen, high blood pressure at birth, and breathing problems. […] ARPKD can be fatal in babies who are born with a severe case of the disease. The first month of life is critical for babies born with ARKPD. […] Theres no cure for PKD. The goal of treatment is to slow the progression of the disease and control the symptoms it causes. […] A healthcare provider may also recommend genetic testing. A blood or saliva test can check for the mutated genes that cause PKD. […] Living a healthy lifestyle can go a long way in managing PKD. Some tips for healthy living include: Eat a kidney-friendly diet. A dietitian can talk to you about which foods to avoid. […] It’s important to work with your provider and follow their instructions to manage the condition.

• #189 Pediatric Polycystic Kidney Disease Treatment & Management: Approach Considerations, Long-Term Monitoring

  https://emedicine.medscape.com/article/983281-treatment

  Survival of neonates depends on neonatal artificial ventilation and intensive care, as well as the degree of pulmonary hypoplasia. In order to optimize ventilation, fluid overload can be managed with diuretics, continuous renal replacement therapy, and nephrectomy. […] Systemic hypertension should be aggressively treated with antihypertensive medication. Angiotensin-converting enzyme (ACE) inhibitors are the drugs of choice. Calcium channel blockers, beta blockers, and the judicious use of diuretics are also potential options. Antibiotics are used to treat urinary tract infections. […] Once children with ARPKD develop chronic kidney disease, they require management of anemia with iron and erythropoietin; prevention of metabolic bone disease with calcium supplements, phosphate binders, and parathyroid-suppressing medication; and growth hormone to counter the growth-limiting effects of uremia.

• #190 ARPKD basics

  https://pkdcharity.org.uk/arpkd/what-is-arpkd/arpkd-basics

  Your child’s care team should include: a paediatric nephrologist, who’ll monitor your child’s kidney health and can provide treatment; a paediatric hepatologist, who’ll monitor your child’s liver health and can provide treatment. […] If your child has kidney failure, they will need a kidney transplant to survive, unless they are receiving dialysis. A liver transplant is the only treatment for liver failure. If your child needs both procedures, they might be performed at the same time. […] Dialysis can be done using a machine to filter the blood (haemodialysis) or by adding fluid to the abdominal space for a few hours at a time to absorb waste products (peritoneal dialysis). If your child has dialysis, they’ll need regular check-ups and you’ll need to watch what they eat and drink. But it is possible for them to live a relatively normal and healthy life while on dialysis.

• #191 CE Activity | Autosomal Recessive Polycystic Kidney Disease | Nurses

  https://www.statpearls.com/nurse/ce/activity/100961/?specialty=Nurse-Neonatal%20Transport%20C-NPT

  Implement proactive management strategies for ARPKD, focusing on multidisciplinary care to address renal and hepatic complications, ensuring optimal patient outcomes. […] Collaborate with geneticists, nephrologists, hepatologists, urologists, surgeons, genetic counselors, and other relevant specialists to create a cohesive and comprehensive care plan for ARPKD patients, addressing both renal and hepatic aspects.

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