Materiały źródłowe

• #1 ARPKD – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/arpkd/

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that affects about 1 in 20,000 children, equally impacting the lives of both boys and girls. […] Receiving an ARPKD diagnosis can feel overwhelming and frightening, especially knowing that it can sometimes be life-threatening in the first month. […] How is ARPKD diagnosed? Prenatal ultrasounds, prenatal genetic testing, and pre-implantation genetic diagnosis (PGD) can be used to diagnose ARPKD.

• #2

  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 discusses aspects of early manifestations in ARPKD and its clinical management with a special focus on kidney disease. […] A clinical diagnosis of ARPKD can be made according to the modified Zerres criteria with typical kidney imaging findings and one or more additional criteria, which include typical liver imaging, typical clinical or laboratory signs of congenital hepatic fibrosis, liver pathology findings of biliary ductal plate malformation, absence of kidney enlargement in both parents or characteristic imaging findings in both parents as demonstrated by high-resolution ultrasonography, and pathology or genetic diagnosis of ARPKD in an affected sibling. Still, in modern times, offering postnatal genetic confirmation of the diagnosis has been recommended for early-onset bilateral cystic kidney diseases.

• #3 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 clinical features, diagnosis, and management of ARPKD will be reviewed here. […] Molecular genetic testing is the gold standard for diagnosis and should be performed when available to identify the underlying variants. […] Molecular genetic testing is the gold standard for the diagnosis of ARPKD. It allows for the exclusion of other genetic cystic renal diseases that have similar presentations. […] If genetic testing is unavailable, the clinical diagnosis of ARPKD is typically made by an abdominal ultrasound that demonstrates both the characteristic findings of large echogenic kidneys with poor corticomedullary differentiation, and coexisting liver disease.

• #4 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.

• #5 Autosomal Recessive Polycystic Kidney Disease | Doctor

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

  Ultrasound: It is the imaging tool of choice in the perinatal period. […] With the increased use of routine scanning, approximately 50% of cases are now diagnosed prenatally. […] Genetic testing in ARPKD: This can be performed using linkage analysis where the patient’s family has at least one diagnosed index case. […] Identification of biallelic pathogenic variants in PKHD1 in the affected individual establishes the diagnosis. […] There may be suspicion if there is a family history of the disease but ultrasound, even into the second trimester, is unreliable in many cases. […] When counselling parents, it is important to stress that diagnostic tests are unreliable in this highly variable condition. […] Management will depend on clinical severity, but may include: Stabilisation of respiratory function by mechanical ventilation.

• #6

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

  A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child’s symptoms and the results of an ultrasound scan. […] In some cases, it may be possible to detect ARPKD during routine ultrasound scans. The kidneys of a baby with ARPKD may appear unusually large or bright on the scan. […] If you have a known family history of ARPKD, it may be possible to be more certain about the diagnosis by testing your and your partner’s blood to see whether you both carry the faulty gene that causes the condition (PKHD1). […] Tests that can be used to help diagnose ARPKD after birth include: a physical examination to look for visible signs of ARPKD, such as a swollen tummy (abdomen), blood pressure monitoring, an ultrasound scan of the kidneys, a blood test to assess kidney function. […] Genetic testing for the faulty PKHD1 gene that causes ARPKD may also help support a diagnosis, but it’s not routine and is usually only carried out if doctors think there’s a possibility that a child’s symptoms could be caused by a condition other than ARPKD.

• #7 Autosomal recessive polycystic kidney disease — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/autosomal-recessive-polycystic-kidney-disease/

  The diagnosis of ARPKD is made based on the typical clinical and radiological findings supported by genomic testing. […] Antenatally, ARPKD is suggested by enlarged hyperechogenic kidneys with poor corticomedullary differentiation. Cysts greater than 10mm in size are rare. Other congenital anomalies are absent. Diagnosis can be confirmed using invasive testing. […] Postnatal diagnosis is typically made using ultrasound to identify enlarged echogenic kidneys and liver disease, congenital hepatic fibrosis, portal hypertension and bile duct disease), with genomic testing for confirmation.

• #8 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. […] 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).

• #9 Autosomal recessive polycystic kidney disease — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/autosomal-recessive-polycystic-kidney-disease/

  The diagnosis of ARPKD is made based on the typical clinical and radiological findings supported by genomic testing. […] Antenatally, ARPKD is suggested by enlarged hyperechogenic kidneys with poor corticomedullary differentiation. Cysts greater than 10mm in size are rare. Other congenital anomalies are absent. Diagnosis can be confirmed using invasive testing. […] Postnatal diagnosis is typically made using ultrasound to identify enlarged echogenic kidneys and liver disease, congenital hepatic fibrosis, portal hypertension and bile duct disease), with genomic testing for confirmation.

• #10 Autosomal recessive polycystic kidney disease — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/autosomal-recessive-polycystic-kidney-disease/

  The diagnosis of ARPKD is made based on the typical clinical and radiological findings supported by genomic testing. […] Antenatally, ARPKD is suggested by enlarged hyperechogenic kidneys with poor corticomedullary differentiation. Cysts greater than 10mm in size are rare. Other congenital anomalies are absent. Diagnosis can be confirmed using invasive testing. […] Postnatal diagnosis is typically made using ultrasound to identify enlarged echogenic kidneys and liver disease, congenital hepatic fibrosis, portal hypertension and bile duct disease), with genomic testing for confirmation.

• #11 Diagnosis – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/arpkd/diagnosis/

  In autosomal recessive polycystic kidney disease (ARPKD), kidneys appear to be larger than normal. In some babies, prenatal ultrasounds can detect enlarged kidneys as early as 18 weeks after conception. […] Some families may hear their doctor say the kidneys look echogenic (more white) during an ultrasound, which can indicate kidney problems such as ARPKD. […] Prenatal genetic testing is possible using samples from either chorionic villus sampling or amniocentesis samples. […] These genetic tests can involve a direct search of the gene for mutations or an indirect association using linkage analysis. […] Another option for prenatal diagnosis in affected families is a recently developed procedure called pre-implantation genetic diagnosis, or PGD. […] The PGD procedure involves in vitro fertilization-eggs harvested from a mother are fertilized in a laboratory with the fathers sperm. Then, the fertilized embryos are tested for ARPKD by removing one or two cells for genetic analysis. […] Embryos determined to be free of the disorder are then placed in the uterus with the intent to initiate a pregnancy.

• #12 Diagnosis – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/arpkd/diagnosis/

  In autosomal recessive polycystic kidney disease (ARPKD), kidneys appear to be larger than normal. In some babies, prenatal ultrasounds can detect enlarged kidneys as early as 18 weeks after conception. […] Some families may hear their doctor say the kidneys look echogenic (more white) during an ultrasound, which can indicate kidney problems such as ARPKD. […] Prenatal genetic testing is possible using samples from either chorionic villus sampling or amniocentesis samples. […] These genetic tests can involve a direct search of the gene for mutations or an indirect association using linkage analysis. […] Another option for prenatal diagnosis in affected families is a recently developed procedure called pre-implantation genetic diagnosis, or PGD. […] The PGD procedure involves in vitro fertilization-eggs harvested from a mother are fertilized in a laboratory with the fathers sperm. Then, the fertilized embryos are tested for ARPKD by removing one or two cells for genetic analysis. […] Embryos determined to be free of the disorder are then placed in the uterus with the intent to initiate a pregnancy.

• #13 Diagnosis – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/arpkd/diagnosis/

  In autosomal recessive polycystic kidney disease (ARPKD), kidneys appear to be larger than normal. In some babies, prenatal ultrasounds can detect enlarged kidneys as early as 18 weeks after conception. […] Some families may hear their doctor say the kidneys look echogenic (more white) during an ultrasound, which can indicate kidney problems such as ARPKD. […] Prenatal genetic testing is possible using samples from either chorionic villus sampling or amniocentesis samples. […] These genetic tests can involve a direct search of the gene for mutations or an indirect association using linkage analysis. […] Another option for prenatal diagnosis in affected families is a recently developed procedure called pre-implantation genetic diagnosis, or PGD. […] The PGD procedure involves in vitro fertilization-eggs harvested from a mother are fertilized in a laboratory with the fathers sperm. Then, the fertilized embryos are tested for ARPKD by removing one or two cells for genetic analysis. […] Embryos determined to be free of the disorder are then placed in the uterus with the intent to initiate a pregnancy.

• #14 Guidelines ARPKD

  https://www.erknet.org/guidelines-pathways/kidney-malformations-ciliopathies/arpkd

  Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. […] Ultrasound imaging is usually sufficient for the postnatal diagnosis of ARPKD with typical clinical features. […] Genetic testing may facilitate the diagnosis in patients with suspected ARPKD especially as phenocopies have been described, and next generation sequencing methods are more and more available. […] Caution must be exercised when predicting the clinical course from the genotype. […] Multidisciplinary prenatal consultation should be arranged in case of prenatal suspicion of ARPKD. […] Prenatal imaging does not provide a precise prediction for the development of lethal neonatal pulmonary hypoplasia. Early and reliable prenatal diagnosis is only feasible by molecular genetic Analysis.

• #15 Diagnosis – Polycystic kidney disease | PKD treatment research | PKD Foundation

  https://pkdcure.org/about-the-disease/arpkd/diagnosis/

  In autosomal recessive polycystic kidney disease (ARPKD), kidneys appear to be larger than normal. In some babies, prenatal ultrasounds can detect enlarged kidneys as early as 18 weeks after conception. […] Some families may hear their doctor say the kidneys look echogenic (more white) during an ultrasound, which can indicate kidney problems such as ARPKD. […] Prenatal genetic testing is possible using samples from either chorionic villus sampling or amniocentesis samples. […] These genetic tests can involve a direct search of the gene for mutations or an indirect association using linkage analysis. […] Another option for prenatal diagnosis in affected families is a recently developed procedure called pre-implantation genetic diagnosis, or PGD. […] The PGD procedure involves in vitro fertilization-eggs harvested from a mother are fertilized in a laboratory with the fathers sperm. Then, the fertilized embryos are tested for ARPKD by removing one or two cells for genetic analysis. […] Embryos determined to be free of the disorder are then placed in the uterus with the intent to initiate a pregnancy.

• #16

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

  A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child’s symptoms and the results of an ultrasound scan. […] In some cases, it may be possible to detect ARPKD during routine ultrasound scans. The kidneys of a baby with ARPKD may appear unusually large or bright on the scan. […] If you have a known family history of ARPKD, it may be possible to be more certain about the diagnosis by testing your and your partner’s blood to see whether you both carry the faulty gene that causes the condition (PKHD1). […] Tests that can be used to help diagnose ARPKD after birth include: a physical examination to look for visible signs of ARPKD, such as a swollen tummy (abdomen), blood pressure monitoring, an ultrasound scan of the kidneys, a blood test to assess kidney function. […] Genetic testing for the faulty PKHD1 gene that causes ARPKD may also help support a diagnosis, but it’s not routine and is usually only carried out if doctors think there’s a possibility that a child’s symptoms could be caused by a condition other than ARPKD.

• #17

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

  A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child’s symptoms and the results of an ultrasound scan. […] In some cases, it may be possible to detect ARPKD during routine ultrasound scans. The kidneys of a baby with ARPKD may appear unusually large or bright on the scan. […] If you have a known family history of ARPKD, it may be possible to be more certain about the diagnosis by testing your and your partner’s blood to see whether you both carry the faulty gene that causes the condition (PKHD1). […] Tests that can be used to help diagnose ARPKD after birth include: a physical examination to look for visible signs of ARPKD, such as a swollen tummy (abdomen), blood pressure monitoring, an ultrasound scan of the kidneys, a blood test to assess kidney function. […] Genetic testing for the faulty PKHD1 gene that causes ARPKD may also help support a diagnosis, but it’s not routine and is usually only carried out if doctors think there’s a possibility that a child’s symptoms could be caused by a condition other than ARPKD.

• #18

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

  A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child’s symptoms and the results of an ultrasound scan. […] In some cases, it may be possible to detect ARPKD during routine ultrasound scans. The kidneys of a baby with ARPKD may appear unusually large or bright on the scan. […] If you have a known family history of ARPKD, it may be possible to be more certain about the diagnosis by testing your and your partner’s blood to see whether you both carry the faulty gene that causes the condition (PKHD1). […] Tests that can be used to help diagnose ARPKD after birth include: a physical examination to look for visible signs of ARPKD, such as a swollen tummy (abdomen), blood pressure monitoring, an ultrasound scan of the kidneys, a blood test to assess kidney function. […] Genetic testing for the faulty PKHD1 gene that causes ARPKD may also help support a diagnosis, but it’s not routine and is usually only carried out if doctors think there’s a possibility that a child’s symptoms could be caused by a condition other than ARPKD.

• #19 Autosomal Recessive Polycystic Kidney Disease (ARPKD) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/377154-overview

  Autosomal recessive polycystic kidney disease (ARPKD) is the most common heritable cystic renal disease occurring in infancy and childhood. […] Ultrasonography is the primary radiologic modality for the evaluation of autosomal recessive polycystic kidney disease (ARPKD), especially during the perinatal and neonatal periods. […] An international working group has issued a consensus statement on imaging of ARPKD in children. Key recommendations include the following: Ultrasonography (US) is the most useful imaging modality with which to diagnose ARPKD, but further information is often necessary to confirm the diagnosis (eg, family history, US examination of the parents, clinical examination, and genetic analysis). […] Ultrasonography is often the first imaging modality used to diagnose cases of autosomal recessive polycystic kidney disease (ARPKD).

• #20

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

  A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child’s symptoms and the results of an ultrasound scan. […] In some cases, it may be possible to detect ARPKD during routine ultrasound scans. The kidneys of a baby with ARPKD may appear unusually large or bright on the scan. […] If you have a known family history of ARPKD, it may be possible to be more certain about the diagnosis by testing your and your partner’s blood to see whether you both carry the faulty gene that causes the condition (PKHD1). […] Tests that can be used to help diagnose ARPKD after birth include: a physical examination to look for visible signs of ARPKD, such as a swollen tummy (abdomen), blood pressure monitoring, an ultrasound scan of the kidneys, a blood test to assess kidney function. […] Genetic testing for the faulty PKHD1 gene that causes ARPKD may also help support a diagnosis, but it’s not routine and is usually only carried out if doctors think there’s a possibility that a child’s symptoms could be caused by a condition other than ARPKD.

• #21 Autosomal recessive polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_recessive_polycystic_kidney_disease

  Ultrasonography is the primary method to evaluate autosomal recessive polycystic kidney disease, particularly in the perinatal and neonatal stages. […] The differential diagnoses of this condition include: Glomerulocystic kidney disease, Autosomal dominant polycystic kidney disease, Diffuse cystic dysplasia.

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

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

  In cases in which the diagnosis is uncertain, other imaging modalities (eg, magnetic resonance imaging [MRI]) may be useful in making the diagnosis. […] The ultrasound findings of ARPKD are characterized by bilateral enlarged hyperechogenic kidneys with poor corticomedullary differentiation and multiple tiny cysts. […] High-resolution ultrasound may improve diagnostic sensitivity, especially in patients with only medullary involvement in whom standard-resolution ultrasonography may be normal. […] In this setting, high-resolution ultrasonography is able to detect ductal dilations confined to the medulla. […] If ultrasound results are equivocal, other imaging modalities may be useful in the diagnosis of ARPKD.

• #23 Autosomal Recessive Polycystic Kidney Disease (ARPKD) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/377154-overview

  In the neonate with ARPKD, sonograms usually show symmetric nephromegaly without contour-deforming masses. […] In children and neonates, renal sonography may show increased echogenicity in the kidneys, particularly in the pyramids; loss of corticomedullary junction differentiation; mild to moderate nephromegaly; and, occasionally, dilated cystic-appearing collecting ducts. […] The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen.

• #24 Autosomal Recessive Polycystic Kidney Disease (ARPKD) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/377154-overview

  In the neonate with ARPKD, sonograms usually show symmetric nephromegaly without contour-deforming masses. […] In children and neonates, renal sonography may show increased echogenicity in the kidneys, particularly in the pyramids; loss of corticomedullary junction differentiation; mild to moderate nephromegaly; and, occasionally, dilated cystic-appearing collecting ducts. […] The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen.

• #25 Autosomal Recessive Polycystic Kidney Disease (ARPKD) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/377154-overview

  In the neonate with ARPKD, sonograms usually show symmetric nephromegaly without contour-deforming masses. […] In children and neonates, renal sonography may show increased echogenicity in the kidneys, particularly in the pyramids; loss of corticomedullary junction differentiation; mild to moderate nephromegaly; and, occasionally, dilated cystic-appearing collecting ducts. […] The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen.

• #26 Autosomal Recessive Polycystic Kidney Disease (ARPKD) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/377154-overview

  In the neonate with ARPKD, sonograms usually show symmetric nephromegaly without contour-deforming masses. […] In children and neonates, renal sonography may show increased echogenicity in the kidneys, particularly in the pyramids; loss of corticomedullary junction differentiation; mild to moderate nephromegaly; and, occasionally, dilated cystic-appearing collecting ducts. […] The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen.

• #27 Autosomal Recessive Polycystic Kidney Disease (ARPKD) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/377154-overview

  In the neonate with ARPKD, sonograms usually show symmetric nephromegaly without contour-deforming masses. […] In children and neonates, renal sonography may show increased echogenicity in the kidneys, particularly in the pyramids; loss of corticomedullary junction differentiation; mild to moderate nephromegaly; and, occasionally, dilated cystic-appearing collecting ducts. […] The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen.

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

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

  In cases in which the diagnosis is uncertain, other imaging modalities (eg, magnetic resonance imaging [MRI]) may be useful in making the diagnosis. […] The ultrasound findings of ARPKD are characterized by bilateral enlarged hyperechogenic kidneys with poor corticomedullary differentiation and multiple tiny cysts. […] High-resolution ultrasound may improve diagnostic sensitivity, especially in patients with only medullary involvement in whom standard-resolution ultrasonography may be normal. […] In this setting, high-resolution ultrasonography is able to detect ductal dilations confined to the medulla. […] If ultrasound results are equivocal, other imaging modalities may be useful in the diagnosis of ARPKD.

• #29 Autosomal Recessive Polycystic Kidney Disease (ARPKD) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/377154-overview

  In the neonate with ARPKD, sonograms usually show symmetric nephromegaly without contour-deforming masses. […] In children and neonates, renal sonography may show increased echogenicity in the kidneys, particularly in the pyramids; loss of corticomedullary junction differentiation; mild to moderate nephromegaly; and, occasionally, dilated cystic-appearing collecting ducts. […] The sonogram may show hepatosplenomegaly, echogenic livers, and ectatic bile ducts that contain nodular protrusions or bridge formation across the ductal lumen.

• #30 Autosomal Recessive Polycystic Kidney Disease (ARPKD) | Concise Medical Knowledge

  https://www.lecturio.com/concepts/autosomal-recessive-polycystic-kidney-disease/

  Autosomal recessive polycystic kidney disease (ARPKD), which is often diagnosed antenatally or shortly after birth, is primarily characterized by cystic dilatations of the renal collecting ducts and intrahepatic bile duct dilatation with hepatic fibrosis. Diagnosis is through physical exam and ultrasonography. […] Diagnosis is inconclusive after imaging. […] Genetic counseling is recommended to determine familial carriers of the mutated PKHD1 gene. […] Ultrasonography of the abdomen: Enlarged, hyperechogenic kidneys bilaterally, poor corticomedullary differentiation, and numerous tiny cysts and ductal dilatation. […] MRI: renal enlargement with microcysts in a hyperintense radial pattern in the cortex and medulla. […] The prognosis of ARPKD depends on the age at presentation, along with the degree of hepatic and renal involvement.

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

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

  In cases in which the diagnosis is uncertain, other imaging modalities (eg, magnetic resonance imaging [MRI]) may be useful in making the diagnosis. […] The ultrasound findings of ARPKD are characterized by bilateral enlarged hyperechogenic kidneys with poor corticomedullary differentiation and multiple tiny cysts. […] High-resolution ultrasound may improve diagnostic sensitivity, especially in patients with only medullary involvement in whom standard-resolution ultrasonography may be normal. […] In this setting, high-resolution ultrasonography is able to detect ductal dilations confined to the medulla. […] If ultrasound results are equivocal, other imaging modalities may be useful in the diagnosis of ARPKD.

• #32 Polycystic kidney disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/diagnosis-treatment/drc-20352825

  For polycystic kidney disease, certain tests can detect the size and number of kidney cysts you have. Tests also can show how much healthy kidney tissue you have. Tests include: […] MRI can help measure total kidney volume, which helps healthcare professionals know more about your condition. […] Ultrasound. This involves putting a wandlike device called a transducer on your body. It gives off sound waves that go back to the transducer. A computer turns the sound waves into images of your kidneys. […] CT scan. You lie on a table that goes into a big, doughnut-shaped device. The device uses X-ray beams to show images of your kidneys. […] Early treatment offers the best chance of slowing the progress of polycystic kidney disease. […] Your care team is likely to ask you questions, such as: Has your kidney function been measured?

• #33 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 clinical features, diagnosis, and management of ARPKD will be reviewed here. […] Molecular genetic testing is the gold standard for diagnosis and should be performed when available to identify the underlying variants. […] Molecular genetic testing is the gold standard for the diagnosis of ARPKD. It allows for the exclusion of other genetic cystic renal diseases that have similar presentations. […] If genetic testing is unavailable, the clinical diagnosis of ARPKD is typically made by an abdominal ultrasound that demonstrates both the characteristic findings of large echogenic kidneys with poor corticomedullary differentiation, and coexisting liver disease.

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

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

  The diagnosis of ARPKD is made in most cases by a combination of renal ultrasound findings, clinical presentation, and the lack of a family history of kidney disease. Genetic testing is beneficial and recommended in confirming a diagnosis of ARPKD, especially if the history, clinical findings, and imaging are inconclusive, as most patients will have an identifiable gene mutation (PHKD1). While genetic testing is considered the „gold standard” diagnostic modality, it may miss some cases due to the large number of genetic variants. Overall reliability (positive predictive value) of genetic testing is reported at 80% to 85%. […] A definitive diagnosis confirmed by genetic testing clearly establishes a prognosis, improves clinical management, facilitates the early detection of comorbidities and complications, avoids unnecessary procedures and invasive testing, optimizes the timing and focus of follow-up evaluations, and allows proper genetic counseling for the patient and family.

• #35 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 clinical features, diagnosis, and management of ARPKD will be reviewed here. […] Molecular genetic testing is the gold standard for diagnosis and should be performed when available to identify the underlying variants. […] Molecular genetic testing is the gold standard for the diagnosis of ARPKD. It allows for the exclusion of other genetic cystic renal diseases that have similar presentations. […] If genetic testing is unavailable, the clinical diagnosis of ARPKD is typically made by an abdominal ultrasound that demonstrates both the characteristic findings of large echogenic kidneys with poor corticomedullary differentiation, and coexisting liver disease.

• #36 Autosomal Recessive Polycystic Kidney Disease | Doctor

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

  Ultrasound: It is the imaging tool of choice in the perinatal period. […] With the increased use of routine scanning, approximately 50% of cases are now diagnosed prenatally. […] Genetic testing in ARPKD: This can be performed using linkage analysis where the patient’s family has at least one diagnosed index case. […] Identification of biallelic pathogenic variants in PKHD1 in the affected individual establishes the diagnosis. […] There may be suspicion if there is a family history of the disease but ultrasound, even into the second trimester, is unreliable in many cases. […] When counselling parents, it is important to stress that diagnostic tests are unreliable in this highly variable condition. […] Management will depend on clinical severity, but may include: Stabilisation of respiratory function by mechanical ventilation.

• #37

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

  A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child’s symptoms and the results of an ultrasound scan. […] In some cases, it may be possible to detect ARPKD during routine ultrasound scans. The kidneys of a baby with ARPKD may appear unusually large or bright on the scan. […] If you have a known family history of ARPKD, it may be possible to be more certain about the diagnosis by testing your and your partner’s blood to see whether you both carry the faulty gene that causes the condition (PKHD1). […] Tests that can be used to help diagnose ARPKD after birth include: a physical examination to look for visible signs of ARPKD, such as a swollen tummy (abdomen), blood pressure monitoring, an ultrasound scan of the kidneys, a blood test to assess kidney function. […] Genetic testing for the faulty PKHD1 gene that causes ARPKD may also help support a diagnosis, but it’s not routine and is usually only carried out if doctors think there’s a possibility that a child’s symptoms could be caused by a condition other than ARPKD.

• #38

  https://111.wales.nhs.uk/encyclopaedia/k/article/kidneydisease,autosomalrecessivepolycystic/

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited childhood condition where the development of the kidneys and liver is abnormal. […] A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child’s symptoms and the results of an ultrasound scan. […] In some cases, it may be possible to detect ARPKD during routine ultrasound scans. […] Tests that can be used to help diagnose ARPKD after birth include: a physical examination to look for visible signs of ARPKD, such as a swollen tummy (abdomen), blood pressure monitoring, an ultrasound scan of the kidneys, a blood test to assess kidney function. […] Genetic testing for the faulty PKHD1 gene that causes ARPKD may also help support a diagnosis, although this is not routine and is usually only carried out if doctors think there is a possibility a child’s symptoms could be caused by a condition other than ARPKD.

• #39 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Diagnosis-of-Polycystic-Kidney-Disease-(PKD).aspx

  Various methods of molecular genetic testing are available to detect mutations in the PKHD1 gene, such as: Sequence analysis, Targeted mutation analysis, Deletion/duplication analysis using various polymerase chain reaction (PCR) techniques or probe amplification methods. […] The place of molecular genetic testing is when clinical features are not diagnostic but suspicion exists as to the condition.

• #40 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Diagnosis-of-Polycystic-Kidney-Disease-(PKD).aspx

  Various methods of molecular genetic testing are available to detect mutations in the PKHD1 gene, such as: Sequence analysis, Targeted mutation analysis, Deletion/duplication analysis using various polymerase chain reaction (PCR) techniques or probe amplification methods. […] The place of molecular genetic testing is when clinical features are not diagnostic but suspicion exists as to the condition.

• #41 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Diagnosis-of-Polycystic-Kidney-Disease-(PKD).aspx

  Various methods of molecular genetic testing are available to detect mutations in the PKHD1 gene, such as: Sequence analysis, Targeted mutation analysis, Deletion/duplication analysis using various polymerase chain reaction (PCR) techniques or probe amplification methods. […] The place of molecular genetic testing is when clinical features are not diagnostic but suspicion exists as to the condition.

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

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

  The diagnosis of ARPKD is made in most cases by a combination of renal ultrasound findings, clinical presentation, and the lack of a family history of kidney disease. Genetic testing is beneficial and recommended in confirming a diagnosis of ARPKD, especially if the history, clinical findings, and imaging are inconclusive, as most patients will have an identifiable gene mutation (PHKD1). While genetic testing is considered the „gold standard” diagnostic modality, it may miss some cases due to the large number of genetic variants. Overall reliability (positive predictive value) of genetic testing is reported at 80% to 85%. […] A definitive diagnosis confirmed by genetic testing clearly establishes a prognosis, improves clinical management, facilitates the early detection of comorbidities and complications, avoids unnecessary procedures and invasive testing, optimizes the timing and focus of follow-up evaluations, and allows proper genetic counseling for the patient and family.

• #43

  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 discusses aspects of early manifestations in ARPKD and its clinical management with a special focus on kidney disease. […] A clinical diagnosis of ARPKD can be made according to the modified Zerres criteria with typical kidney imaging findings and one or more additional criteria, which include typical liver imaging, typical clinical or laboratory signs of congenital hepatic fibrosis, liver pathology findings of biliary ductal plate malformation, absence of kidney enlargement in both parents or characteristic imaging findings in both parents as demonstrated by high-resolution ultrasonography, and pathology or genetic diagnosis of ARPKD in an affected sibling. Still, in modern times, offering postnatal genetic confirmation of the diagnosis has been recommended for early-onset bilateral cystic kidney diseases.

• #44 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 clinical features, diagnosis, and management of ARPKD will be reviewed here. […] Molecular genetic testing is the gold standard for diagnosis and should be performed when available to identify the underlying variants. […] Molecular genetic testing is the gold standard for the diagnosis of ARPKD. It allows for the exclusion of other genetic cystic renal diseases that have similar presentations. […] If genetic testing is unavailable, the clinical diagnosis of ARPKD is typically made by an abdominal ultrasound that demonstrates both the characteristic findings of large echogenic kidneys with poor corticomedullary differentiation, and coexisting liver disease.

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

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

  The differential diagnosis of ARPKD includes other renal cystic disorders and hepatobiliary diseases. ARPKD is clinically differentiated from these disorders by its characteristic kidney and liver findings on abdominal ultrasonography. […] There is no known curative intervention for ARPKD. The management of ARPKD consists of supportive therapy including the management of respiratory distress in affected neonates, and KRT for patients who progress to ESKD.

• #46 Autosomal recessive polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_recessive_polycystic_kidney_disease

  Ultrasonography is the primary method to evaluate autosomal recessive polycystic kidney disease, particularly in the perinatal and neonatal stages. […] The differential diagnoses of this condition include: Glomerulocystic kidney disease, Autosomal dominant polycystic kidney disease, Diffuse cystic dysplasia.

• #47 Autosomal recessive polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_recessive_polycystic_kidney_disease

  Ultrasonography is the primary method to evaluate autosomal recessive polycystic kidney disease, particularly in the perinatal and neonatal stages. […] The differential diagnoses of this condition include: Glomerulocystic kidney disease, Autosomal dominant polycystic kidney disease, Diffuse cystic dysplasia.

• #48 Autosomal recessive polycystic kidney disease – Wikipedia

  https://en.wikipedia.org/wiki/Autosomal_recessive_polycystic_kidney_disease

  Ultrasonography is the primary method to evaluate autosomal recessive polycystic kidney disease, particularly in the perinatal and neonatal stages. […] The differential diagnoses of this condition include: Glomerulocystic kidney disease, Autosomal dominant polycystic kidney disease, Diffuse cystic dysplasia.

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

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

  The diagnosis of ARPKD is made in most cases by a combination of renal ultrasound findings, clinical presentation, and the lack of a family history of kidney disease. Genetic testing is beneficial and recommended in confirming a diagnosis of ARPKD, especially if the history, clinical findings, and imaging are inconclusive, as most patients will have an identifiable gene mutation (PHKD1). While genetic testing is considered the „gold standard” diagnostic modality, it may miss some cases due to the large number of genetic variants. Overall reliability (positive predictive value) of genetic testing is reported at 80% to 85%. […] A definitive diagnosis confirmed by genetic testing clearly establishes a prognosis, improves clinical management, facilitates the early detection of comorbidities and complications, avoids unnecessary procedures and invasive testing, optimizes the timing and focus of follow-up evaluations, and allows proper genetic counseling for the patient and family.

• #50 Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-020-02013-2

  Twenty-four out of the 32 families had a family history suggesting an autosomal recessive pattern of inherited kidney disease, and there was known consanguinity in 21 families (66%). […] A molecular genetic diagnosis with biallelic PKHD1 mutations was known in 18 patients and newly identified in 20 other patients, totalling 38 patients from 30 different families. […] The limited number of PKHD1 missense variants identified in ARPKD cases suggests these may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman. […] The importance of early diagnosis and management of ARPKD through genetic testing is widely recognized. […] Precise molecular genetic diagnosis can improve the clinical management of patients, avoiding the exposure to unnecessary and invasive investigations and enhance early detection of kidney and extrarenal complications.

• #51 Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-020-02013-2

  Twenty-four out of the 32 families had a family history suggesting an autosomal recessive pattern of inherited kidney disease, and there was known consanguinity in 21 families (66%). […] A molecular genetic diagnosis with biallelic PKHD1 mutations was known in 18 patients and newly identified in 20 other patients, totalling 38 patients from 30 different families. […] The limited number of PKHD1 missense variants identified in ARPKD cases suggests these may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman. […] The importance of early diagnosis and management of ARPKD through genetic testing is widely recognized. […] Precise molecular genetic diagnosis can improve the clinical management of patients, avoiding the exposure to unnecessary and invasive investigations and enhance early detection of kidney and extrarenal complications.

• #52 Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD) | Scientific Reports

  https://www.nature.com/articles/s41598-019-43488-w

  Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. […] The diagnosis and treatment of adult ARPKD patients can be particularly challenging due to the low prevalence of the disease in general, partly non-typical disease manifestations and a very low incidence of initial diagnoses of ARPKD in adulthood. […] Approximately one third (16/45) of patients were primarily diagnosed by postpartal incidental findings. Other reasons for initial visits at a doctor included diagnostic workup for failure to thrive, cardiac failure, macroscopic hematuria, urinary tract infection or respiratory distress syndrome. Median age at diagnosis (n=37) was 0.5 (IQR 0.11.5) years with a range of 0.3 to 25 years indicating that one quarter of all patients received their diagnosis pre- or perinatally.

• #53 Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD) | Scientific Reports

  https://www.nature.com/articles/s41598-019-43488-w

  In case of late manifesting disease, diagnosis of ARPKD can be challenging since the sonographic pattern can present atypically. Genetic testing may be required to establish the correct diagnosis. […] An important conclusion from our data is that ARPKD should also be considered as a differential diagnosis in adult patients with cystic kidney disease with or without renal replacement therapy. Signs of hepatic involvement and portal hypertension such as thrombocytopenia or splenomegaly may be helpful for clinical guidance. A high level of suspicion is required to identify adult ARPKD patients and a specific work-up of liver involvement including the search for signs of portal hypertension should be considered in adult patients with cystic kidney disease.

• #54 Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD) | Scientific Reports

  https://www.nature.com/articles/s41598-019-43488-w

  In case of late manifesting disease, diagnosis of ARPKD can be challenging since the sonographic pattern can present atypically. Genetic testing may be required to establish the correct diagnosis. […] An important conclusion from our data is that ARPKD should also be considered as a differential diagnosis in adult patients with cystic kidney disease with or without renal replacement therapy. Signs of hepatic involvement and portal hypertension such as thrombocytopenia or splenomegaly may be helpful for clinical guidance. A high level of suspicion is required to identify adult ARPKD patients and a specific work-up of liver involvement including the search for signs of portal hypertension should be considered in adult patients with cystic kidney disease.

• #55 Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD) | Scientific Reports

  https://www.nature.com/articles/s41598-019-43488-w

  Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. […] The diagnosis and treatment of adult ARPKD patients can be particularly challenging due to the low prevalence of the disease in general, partly non-typical disease manifestations and a very low incidence of initial diagnoses of ARPKD in adulthood. […] Approximately one third (16/45) of patients were primarily diagnosed by postpartal incidental findings. Other reasons for initial visits at a doctor included diagnostic workup for failure to thrive, cardiac failure, macroscopic hematuria, urinary tract infection or respiratory distress syndrome. Median age at diagnosis (n=37) was 0.5 (IQR 0.11.5) years with a range of 0.3 to 25 years indicating that one quarter of all patients received their diagnosis pre- or perinatally.

• #56 Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-020-02013-2

  However, recent advances in massive parallel sequencing / next generation sequencing (NGS) have facilitated routine large scale screening for pathogenic mutations in PKHD1. […] In total, twenty-one families (66%) carried homozygous alleles, while 9 (28%) carried compound heterozygous alleles. […] The most commonly detected mutation in PKHD1 was p.(Thr36Met), where 16 families carried it in homozygous state, while 8 families were compound heterozygous for this allele combined with the p.(Thr136Ala) allele (5 families) or the p.(Arg1624Trp) allele (3 families). […] In total, 30 out of 32 suspected ARPKD families were solved with biallelic changes in PKHD1, achieving a diagnostic rate of 94%, hence providing cost effective targeted PCR analysis of these specific alleles as a convenient diagnostic tool. […] The relatively common pathogenic PKHD1 allele p.(Thr36Met) has been described in many populations and ethnicities.

• #57 Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report | Egyptian Journal of Medical Human Genetics | Full Text

  https://jmhg.springeropen.com/articles/10.1186/s43042-024-00568-5

  Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6. The predominant phenotype is characterized by early-onset bilateral enlarged kidneys, as well as fibrocystic changes in the kidney and liver. […] The case is being presented for its clinical rarity, in addition to emphasize the critical role of NGS approaches in diagnosis. […] The mutation was identified by whole-exome sequencing, and the results were confirmed by segregation analysis. […] Considering the poor prognosis of ARPKD in childhood, genetic assessment using next generation sequencing (NGS) methods appeared to be vital for PKD patients, thereby preventing the consequences in the next generation. […] The definite diagnosis of ARPKD is based on the findings of molecular genetic evaluation of the PKHD gene, identifying the pathogenic variants. In this regard, mainstream PCR-based sequencing of the causative exons plays a crucial role. However, the current trend is toward applying WES for ARPKD genetic analysis.

• #58 Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report | Egyptian Journal of Medical Human Genetics | Full Text

  https://jmhg.springeropen.com/articles/10.1186/s43042-024-00568-5

  A positive aspect of genetic testing in patients diagnosed with ARPKD is that we can approach the other possible diagnoses as well. […] It is strongly recommended that patients who are diagnosed with adult polycystic kidney disease undergo genetic evaluation and avoid blind genetic consultation, thereby preventing the birth of an infant with ARPKD in the next generation.

• #59 Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report | Egyptian Journal of Medical Human Genetics | Full Text

  https://jmhg.springeropen.com/articles/10.1186/s43042-024-00568-5

  A positive aspect of genetic testing in patients diagnosed with ARPKD is that we can approach the other possible diagnoses as well. […] It is strongly recommended that patients who are diagnosed with adult polycystic kidney disease undergo genetic evaluation and avoid blind genetic consultation, thereby preventing the birth of an infant with ARPKD in the next generation.

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

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

  The differential diagnosis of ARPKD includes other renal cystic disorders and hepatobiliary diseases. ARPKD is clinically differentiated from these disorders by its characteristic kidney and liver findings on abdominal ultrasonography. […] There is no known curative intervention for ARPKD. The management of ARPKD consists of supportive therapy including the management of respiratory distress in affected neonates, and KRT for patients who progress to ESKD.

• #61

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

  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. […] 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.

• #62

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

  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. […] 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.

• #63 Autosomal Recessive Polycystic Kidney Disease | Doctor

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

  Those with end-stage renal disease and severe portal hypertension may be candidates for dual renal/liver transplantation. […] Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] ARPKD shows a range of severity, with 30% of individuals dying early and the majority having good prognosis if they survive the first year of life.

• #64 Polycystic Kidney Disease (PKD) in Children | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/polycystic-kidney-disease

  Autosomal recessive PKD is a rare, inherited form thought to be caused by a different genetic flaw that the one responsible for autosomal dominant PKD. […] Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. It may also be helpful to perform ultrasound examinations of the kidneys of your child’s relatives. […] 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. […] Your child’s physician will establish a treatment plan for autosomal recessive PKD only after careful consideration of her symptoms and medical situation. Treatment approaches may include: Treatment for high blood pressure, Treatment for urinary tract infections, Hormonal therapy, Dialysis, Kidney transplantation.

• #65 Polycystic Kidney Disease (PKD) in Children | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/polycystic-kidney-disease

  Autosomal recessive PKD is a rare, inherited form thought to be caused by a different genetic flaw that the one responsible for autosomal dominant PKD. […] Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. It may also be helpful to perform ultrasound examinations of the kidneys of your child’s relatives. […] 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. […] Your child’s physician will establish a treatment plan for autosomal recessive PKD only after careful consideration of her symptoms and medical situation. Treatment approaches may include: Treatment for high blood pressure, Treatment for urinary tract infections, Hormonal therapy, Dialysis, Kidney transplantation.

• #66 Polycystic Kidney Disease (PKD) in Children | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/polycystic-kidney-disease

  Autosomal recessive PKD is a rare, inherited form thought to be caused by a different genetic flaw that the one responsible for autosomal dominant PKD. […] Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. It may also be helpful to perform ultrasound examinations of the kidneys of your child’s relatives. […] 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. […] Your child’s physician will establish a treatment plan for autosomal recessive PKD only after careful consideration of her symptoms and medical situation. Treatment approaches may include: Treatment for high blood pressure, Treatment for urinary tract infections, Hormonal therapy, Dialysis, Kidney transplantation.

• #67 Polycystic Kidney Disease (PKD) in Children | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/polycystic-kidney-disease

  Autosomal recessive PKD is a rare, inherited form thought to be caused by a different genetic flaw that the one responsible for autosomal dominant PKD. […] Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. It may also be helpful to perform ultrasound examinations of the kidneys of your child’s relatives. […] 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. […] Your child’s physician will establish a treatment plan for autosomal recessive PKD only after careful consideration of her symptoms and medical situation. Treatment approaches may include: Treatment for high blood pressure, Treatment for urinary tract infections, Hormonal therapy, Dialysis, Kidney transplantation.

• #68 Polycystic Kidney Disease (PKD) in Children | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/polycystic-kidney-disease

  Autosomal recessive PKD is a rare, inherited form thought to be caused by a different genetic flaw that the one responsible for autosomal dominant PKD. […] Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. It may also be helpful to perform ultrasound examinations of the kidneys of your child’s relatives. […] 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. […] Your child’s physician will establish a treatment plan for autosomal recessive PKD only after careful consideration of her symptoms and medical situation. Treatment approaches may include: Treatment for high blood pressure, Treatment for urinary tract infections, Hormonal therapy, Dialysis, Kidney transplantation.

• #69 Autosomal Recessive Polycystic Kidney Disease | Doctor

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

  Those with end-stage renal disease and severe portal hypertension may be candidates for dual renal/liver transplantation. […] Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] ARPKD shows a range of severity, with 30% of individuals dying early and the majority having good prognosis if they survive the first year of life.

• #70 Autosomal Recessive Polycystic Kidney Disease | Doctor

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

  Those with end-stage renal disease and severe portal hypertension may be candidates for dual renal/liver transplantation. […] Regular monitoring of blood pressure, renal function, serum electrolyte concentrations, hydration, nutrition, and growth. […] ARPKD shows a range of severity, with 30% of individuals dying early and the majority having good prognosis if they survive the first year of life.

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

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

  Autosomal recessive polycystic kidney disease (ARPKD), is an inherited condition caused by mutations in the PKHD1 gene in which clusters of fluid-filled sacs (cysts) form in the kidneys, often leading to kidney failure by the age of 10 and a reduced lifespan. […] The majority of infants with ARPKD show enlarged, cyst-filled kidneys within the first month of life. […] These anomalies are often detectable through an ultrasound before the child is born. […] The prevalence of ARPKD is 1 in 10,000 to 1 in 40,000 infants. However, the disease may actually be more common than these estimates suggest because people with milder forms of the disease may not be diagnosed without genetic testing. […] 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. […] Without treatment, approximately 30% of infants with ARPKD die within the first year of life due to breathing difficulties or lung infections. However, with treatments to aid breathing and/or kidney transplantation, about 80% of affected individuals will survive past infancy.

• #72 The Fetal Medicine Foundation

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

  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%.

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