Materiały źródłowe

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

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

  ARPKD is one of the most common causes of heritable, infantile cystic renal disease. Despite that, it is found in only 1 in 20,000 to 40,000 live births. In nonisolated populations, this suggests a carrier frequency of about 1 in 70. […] There is no gender, ethnic, or racial predilection. Patients who are heterozygous for ARPKD can show mild variations of polycystic kidney or hepatic cystic disease. […] The number of children with early onset autosomal dominant polycystic kidney disease is comparable to the number with ARPKD, which can make differentiation difficult in the pediatric age group.

• #2 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 estimated incidence of autosomal recessive polycystic kidney disease (ARPKD) is 1:20,000 live births, with a carrier frequency of one in 70. […] The age of presentation varies with approximately one-third of patients presenting before 1 year of age, one-third between 1 and 20 years of age, and one-third after 20 years of age. […] The outcome of ARPKD is dependent on the degree of kidney and hepatic involvement, which is most often reflected by the age of presentation. The mortality rate is greatest for patients who present as neonates with severe kidney disease associated with pulmonary insufficiency, with reported rates of 30 percent. […] Patients who survive the first month have a greater than 80 percent chance of survival beyond 15 years of age.

• #2 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. […] About 30 percent of newborns with ARPKD die within their first week of life. […] How quickly ARPKD progresses to kidney failure is different for each child. […] Getting good prenatal care is important for increasing a child’s survival rate. […] Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. […] Most children with ARPKD have high blood pressure. […] Health care providers diagnose ARPKD with ultrasound imaging. […] Kidney enlargement cannot be prevented or reversed. […] A health care provider can help control blood pressure with medicines. Treating high blood pressure can help delay kidney failure.

• #3 Polycystic kidney disease: MedlinePlus GeneticsLock

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

  Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. […] The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy. […] 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.

• #3 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. […] About 30 percent of newborns with ARPKD die within their first week of life. […] How quickly ARPKD progresses to kidney failure is different for each child. […] Getting good prenatal care is important for increasing a child’s survival rate. […] Children with ARPKD who survive birth often have kidney and liver problems that can affect their breathing. […] Most children with ARPKD have high blood pressure. […] Health care providers diagnose ARPKD with ultrasound imaging. […] Kidney enlargement cannot be prevented or reversed. […] A health care provider can help control blood pressure with medicines. Treating high blood pressure can help delay kidney failure.

• #4

  https://link.springer.com/article/10.1007/s00467-024-06281-0

  The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the world, attributed to the high prevalence of consanguinity. […] Autosomal recessive PKD (ARPKD) is the less common yet aggressive form of PKD. ARPKD has an estimated incidence between 1:10,000 and 1:40,000. […] Although limited data are available, the published literature suggests that the incidence of ARPKD may be higher in the MENA region due to consanguineous marriages. […] Patients with ARPKD from the MENA region usually present at a later disease stage and have a relatively short time to progress to kidney failure. […] Limited data are available regarding the management practice in the region, which warrants further investigations.

• #5 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 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. […] Mutations in the PKHD1 gene account for about 75% of ARPKD cases.

• #6 Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

  https://www.mdpi.com/1422-0067/22/12/6523

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. ARPKD is a rare disease; an incidence of 1 in 8000 births was calculated in an isolated and inbred population from Finland. However, in the Americas (North, Central, and South), the reported incidence is 1 in 26:485 births, and the annualized prevalence is 1.17 per 100,000. The widespread prevalence of ARPKD is estimated to be 1 in 20:000 births. […] ARPKD is phenotypically highly variable; it can present as a disease of perinatal, neonatal, infantile, juvenile, or young adult-onset disease, with no known gender or ethnic bias. […] Detection of severe oligohydramnios is associated with worse outcome due to the high risk of associated pulmonary hypoplasia. Up to 50% of ARPKD neonates die of respiratory insufficiency due to pulmonary hypoplasia and thoracic compression. However, after the perinatal period, survival is high, reaching 1-year and 10-year survival rates of 85% and 82%, respectively.

• #7

  https://journals.lww.com/cjasn/fulltext/2022/10000/perspectives_on_drug_development_in_autosomal.19.aspx

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare hepatorenal fibrocystic disease that often presents prenatally or in the first year of life and remains a major cause of morbidity and mortality in pediatric nephrology. […] Drug development for ARPKD has been hampered by the rareness of the disease (with an estimated incidence of one in 26,500 live births in America), limited preclinical models, knowledge gaps on longitudinal disease courses and prognostic markers of this variable disease, and a lack of clearly defined applicable primary end points for clinical trials. […] Given the high likelihood that small numbers of patients will be included even for kidney-related end points, it will be of utmost importance to ensure comparable risk stratification among participants in ARPKD trials. […] The development of large internationally harmonized observational studies and the identification of prognostic biomarkers will pave the way for interventional trials.

• #8 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). […] ARPKD is the most common genetic cystic renal disease occurring in infancy and childhood. However, it is nonetheless a rare disorder and is much less common than ADPKD. […] Studies suggest a prevalence of between 5-10 in 100,000 births (with carrier frequency of between 1 in 50-70).

• #9 Polycystic kidney disease epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Polycystic_kidney_disease_epidemiology_and_demographics

  The prevalence of autosomal recessive polycystic kidney disease (ARPKD) is approximately 5 per 100,000 children in the United States. […] ARPKD commonly affects infants and children.

• #10 Pediatric Polycystic Kidney Disease: Background, Etiology, Epidemiology

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

  Autosomal recessive polycystic kidney disease (ARPKD) occurs in about 1 in 20,000 live births, with a carrier rate of 1 in 70 individuals. The exact incidence of ARPKD is unknown because of varying reports in patient autopsies versus survivors, as well as the possibility of affected children who die perinatally without a definitive diagnosis. The frequency of ARPKD has been reported as 1 case per 10,000-40,000 births, although the frequency of the gene in the general population is estimated to be 1 case per 70 population. […] Because of the recessive inheritance of ARPKD, both parents are unaffected. The recurrence risk in subsequent pregnancies is 25%. Unaffected siblings have a 66% chance of being carriers. Carriers or heterozygotes are asymptomatic. […] The estimated prevalence of ADPKD is 1 case per 200-1000 population. ADPKD is responsible for 6-10% of cases of end-stage renal disease in North America. Because of the autosomal dominant inheritance, one parent is usually affected, and each offspring has a 50% chance of inheriting the gene, with a penetrance of almost 100%. […] Both forms of polycystic kidney disease affect all racial and ethnic groups, and both equally affect males and females.

• #11 Autosomal recessive polycystic kidney disease — Knowledge Hub

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

  Autosomal recessive polycystic kidney disease (ARPKD) affects about 1-in-20,000 live births and can be clinically very variable. […] ARPKD is an autosomal recessive condition that affects about 1-in-20,000 live births and has a carrier frequency of 1 in 70. […] Patients with a confirmed diagnosis of ARPKD should be registered on the National Registry of Rare Kidney Diseases (RaDaR). RaDaR facilitates translational and epidemiological research into rare diseases through a comprehensive clinical database.

• #12 Polycystic kidney disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820

  Autosomal recessive polycystic kidney disease (ARPKD) is far less common than is ADPKD. The symptoms often appear soon after birth. Sometimes, symptoms don’t appear until later in childhood or during the teen years. […] Both parents must have gene changes to pass on this form of the condition. If both parents carry a changed gene, each child has a 25% chance of getting the condition.

• #13 Orphanet: Autosomal recessive polycystic kidney disease

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

  Prevalence is estimated at 1/20,000 live births. Male and female children are equally affected. […] 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.

• #14 About the Disease – Polycystic kidney disease | PKD treatment research | PKD Foundation

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

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder occurring in approximately 1 in 20,000 children, equally affecting boys and girls. […] Yes, there is a risk of passing on PKD on to your children if you have the genetic mutation associated with the condition. PKD is an inherited disorder caused by genetic mutations, and if one or both parents have PKD, there is a chance that their children may inherit the mutated gene and develop the disease. However, the severity of PKD and the likelihood of passing it on can vary depending on the specific genetic mutations involved. Genetic counseling can help assess this risk and provide guidance for individuals and families affected by PKD.

• #15 Autosomal recessive polycystic kidney disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/autosomal-recessive-polycystic-kidney-disease?lang=us

  Autosomal recessive polycystic kidney disease (ARPKD) is one of the commonest inheritable infantile cystic renal diseases but is far less common than autosomal dominant polycystic kidney disease (ADPKD) which affects adults. The incidence is estimated at ~1:20,000-50,000. There is no perceived gender or racial predilection. […] The prognosis is poor in general but also significantly depends on the type. Overall, ~40% (range 30-50%) of affected infants die during the perinatal period owing to pulmonary hypoplasia and pulmonary insufficiency.

• #16

  https://omim.org/entry/263200

  It has long been recognized that the age distribution of cases of polycystic kidneys has 2 peaks, one at birth and one between ages 30 to 60 years. […] Kaariainen (1987) collected information in Finland on 82 children treated during the years 1974 to 1983 for polycystic kidney disease. The frequency was about 1 per 8,000 births. Early lethal disease was present in 51, whereas 31 survived for over 28 days. […] One of the notable features of both dominant and recessive PKD in humans is the variability of the phenotype, with respect to both disease progression and extrarenal manifestations. […] Kaplan et al. (1989) documented marked variability of clinical disease even within kindreds. […] Zerres et al. (1998) estimated the incidence of ARPKD at 1 in 20,000. […] Ramsay et al. (1988) stated that although incidence figures were not available, casual observation indicated that autosomal recessive PKD is more common in Afrikaans-speaking families in South Africa than in other South African populations or in populations elsewhere in the world (Thomson and Isdale, 1984).

• #17 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. […] 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. […] There are four different types of autosomal recessive PKD, depending on the child’s age when symptoms become evident: Perinatal form (present at birth), Neonatal form (presents within the first month of life), Infantile form (presents between age 3 months and 6 months), Juvenile form (presents after age 1).

• #18 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/urinary-tract/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 scans every 4 weeks to monitor growth and assess amniotic fluid volume. […] 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. […] Risk of recurrence: 25%.

• #19 Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-020-00922-4

  Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. […] The management of newborns with severe pulmonary insufficiency is particularly challenging, also due to lack of reliable clinical prognostic markers. […] Causes of early death are sepsis or respiratory failure, due to lung hypoplasia and displacement of the diaphragm by bilateral nephromegaly. […] In cases of massive renal enlargement, early bilateral nephrectomy, supportive peritoneal dialysis and early aggressive nutrition may reduce infant mortality. […] However, there is no conclusive data on role and optimal timing of surgery, and decision-making is driven by patients clinical condition and expertise of the center. […] The majority of ARPKD patients are identified late in pregnancy or at birth.

• #20 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. Here, we describe forty-nine patients with longitudinal follow-up into young adulthood that were identified in the international ARPKD cohort study ARegPKD. […] 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. In the literature, we can only refer to small case series or single case reports on adult ARPKD patients.

• #21 Autosomal recessive polycystic kidney disease diagnosed in a 39-year-old woman with kidney failure and cramps | Nefrología

  https://www.revistanefrologia.com/en-autosomal-recessive-polycystic-kidney-disease-diagnosed-in-39-year-old-woman-with-articulo-S2013251416300438

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with an estimated incidence of 1:10,000 to 1:40,000. It is due to a mutation in the PKHD1 gene that codes for a protein called fibrocystin or polyductin which is responsible for differentiating between kidney and bile duct tubules. It is characterised by kidney cysts with progressive kidney function deterioration and biliary dysgenesis that causes congenital liver fibrosis. Subtypes can be established according to the age of presentation and severity of the disease: prenatal, neonatal, childhood and young adult. The most severe cases with nephromegaly and Potter’s syndrome are described in the first year of life, while those detected in adolescence are less symptomatic and kidney function deteriorates later. Nevertheless, there are few published articles describing patients that were diagnosed as adults.

• #22 Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy | Pediatric Research

  https://www.nature.com/articles/pr2013191

  Autosomal recessive polycystic kidney disease (ARPKD) is a dual-organ hepatorenal disease with an incidence of 1:20,000 to 1:40,000 and a heterozygote carrier rate of 1 in 70. […] ARPKD occurs less frequently (1:20,000 live births) than ADPKD, is commonly diagnosed in utero or at birth, and occurs as a result of mutations in a single gene, polycystic kidney and hepatic disease 1 (PKHD1). […] Nearly 50% of affected individuals surviving the neonatal period progress to end-stage renal disease within the first decade of life. […] The 15-y survival of patients surviving the first year of life is projected to be 85%. […] Despite improved survival, morbidity of this dual-organ disease is significant due to the following reasons: (i) renal collecting duct ectatic cysts and marked renal enlargement, leading to hypertension and progressive renal failure and (ii) biliary dysgenesis, leading to abnormal bile duct formation with progressive periportal congenital hepatic fibrosis. […] Mutation analysis of the PKHD1 gene has shown that ARPKD may present in individuals older than age 20, a finding that has significantly broadened the clinical spectrum of the disease.

• #23

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

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder with an estimated incidence of 1 in 20,000 live births in Caucasians, corresponding to a carrier frequency of approximately 1:70. […] The disease still poses a major challenge in pediatric nephrology for patients, families, and caregivers. […] It is estimated that about 50% of ARPKD patients will require kidney replacement therapy in the first two decades of life. […] A more recent calculation for the USA revealed a survival rate of 79% for the period between 2010 and 2014. […] ARPKD is one of the two major indications for pediatric combined liver and kidney transplantation, although clear-cut recommendations for this indication remain to be established. […] 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. […] 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.

• #24 Autosomal Recessive Polycystic Kidney Disease

  https://www.urology-textbook.com/arpkd.html

  Incidence 1:20.000 to 1:40.000 […] 50% of affected children die within the first days of life. Of the children who survive the neonatal period, 5080% will become older than ten years. Siblings of affected children have a risk of 25% for autosomal recessive polycystic kidney disease.

• #25

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

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited childhood condition where the development of the kidneys and liver is abnormal. […] Even though ARPKD is rare, it’s one of the most common kidney problems to affect young children. […] It’s estimated around 1 in 20,000 babies is born with the condition. Both boys and girls are affected equally. […] If both parents carry a faulty version of this gene, there’s a 1 in 4 chance of each child they have developing ARPKD. […] The outlook for children with ARPKD can vary considerably depending on the severity of the condition. […] But in general, ARPKD is a severe condition and around 1 in 3 babies will die from severe breathing difficulties during the first 4 weeks after birth. […] About 9 out of 10 babies with ARPKD who survive the first month of life will live until they’re at least 5 years old. […] It’s difficult to predict exactly how long a child with ARPKD will live because there’s very little data showing long-term survival rates.

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

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

  If ARPKD is confirmed early in a pregnancy, antenatal counselling may be offered to discuss options about the future of the pregnancy. […] If both parents have been confirmed as carriers of ARPKD, pre-natal and/or pre-implantation genetic diagnosis (PGD) may be offered. […] There are currently no treatments that can cure or slow the progression of ARPKD. […] Regular blood and urine tests are needed to monitor kidney function. […] About six in 10 children with ARPKD will have developed kidney failure by the age of 10 and need dialysis or a kidney transplant. […] One in 10 children will need a liver transplant or a joint liver and kidney transplant.

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

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

  ARPKD affects around 1 in 20,000 people in the UK and is equally common in men and women. […] 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. […] Research is taking place into possible future treatments to ensure the best chance of survival for those with ARPKD. […] Most people with ARPKD develop kidney and/or liver problems during childhood. […] Children with ARPKD need careful monitoring from specialist treatment teams. […] ARPKD is usually diagnosed in babies and young children. […] Blood and urine tests are also used to monitor how well the kidneys are working. […] ARPKD may also be confirmed by genetic testing, which is becoming more reliable with improvements in genetic techniques.

• #27 Polycystic kidney disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/polycystic-kidney-disease/

  ARPKD: 1/20,000 [4] […] Epidemiological data refers to the US, unless otherwise specified. […] ARPKD: Autosomal recessive inheritance […] Mutation in PKHD1 gene on chromosome 6, the gene that encodes for fibrocystin, a protein involved in the maintenance of primary cilia of the renal collecting duct and biliary epithelial cells. […] Symptom onset occurs most commonly in utero, infancy, or childhood. […] Renal manifestations are typically more severe in patients with perinatal onset than those with onset in childhood, adolescence, or adulthood. […] Perinatal and infant mortality rates are high. [1] […] Neonates with severe kidney disease have a mortality rate of up to 40%. [1] […] 60% of patients with ARPKD develop ESRD by 20 years of age. [1]

• #28 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. […] ARPKD is extremely rare. It occurs in 1 out of 25,000 people. […] 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. […] The outlook for children with ARPKD isnt as positive. About one-third of all infants born with ARPKD dont survive. Babies who do survive will likely need medical treatment for the rest of their lives. About half of children who survive infanthood will have kidney failure by age 15 to 20.

• #29 Autosomal recessive polycystic kidney disease | nidirect

  https://www.nidirect.gov.uk/conditions/autosomal-recessive-polycystic-kidney-disease

  ARPKD tends to be less immediately life-threatening in infants and older children, although the condition can still cause a wide range of serious problems. […] Most children with ARPKD will develop kidney failure by the time they’re 15 to 20 years old. […] The outlook for children with ARPKD can vary considerably, depending on the severity of the condition.

• #29 Autosomal recessive polycystic kidney disease | nidirect

  https://www.nidirect.gov.uk/conditions/autosomal-recessive-polycystic-kidney-disease

  Autosomal recessive polycystic kidney disease is a rare, inherited childhood condition, where development of the kidneys and liver is abnormal. […] The symptoms of autosomal recessive polycystic kidney disease (ARPKD) can vary significantly, even within the same family. […] In many cases, potential signs of ARPKD can be detected before birth during routine ultrasound scans. […] If your baby has the condition, an ultrasound scan may show that: they have enlarged or „bright” kidneys; their lungs are underdeveloped; there’s a lack of amniotic fluid surrounding your baby. […] When your baby is born, there may be clearer signs that suggest they have ARPKD, such as significant breathing difficulties this is caused by the lungs being underdeveloped; a swollen abdomen (tummy) caused by enlargement of the kidneys; Potter’s syndrome where a lack of amniotic fluid leads to deformities of the limbs, face and ears.

• #30 Autosomal Recessive Polycystic Kidney Disease – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/autosomal-recessive-polycystic-kidney-disease/

  Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a common genetic cause of serious kidney problems in infants. But even so, it only occurs in about 1 in every 20,000 to 40,000 newborn babies. This implies that about 1 in 70 people, regardless of age, race, or gender, can potentially carry this disease. […] ARPKD or the Autosomal Recessive Polycystic Kidney Disease has become easier to detect in patients early, thanks to routine antenatal ultrasound. The scans often reveal very large and bumpy kidneys. […] The outcome of patients with complications like lung, liver, and kidney disease depends on the seriousness of these conditions. Newborns with severe kidney disease might not survive due to lung underdevelopment and failure, which can happen in up to 40% of such cases. […] Despite advancements in newborn care leading to better survival rates, neonatal mortality still lies around 20%. Those who do survive the early days of life generally have a ten-year survival rate of approximately 82%. However, these individuals often experience worsening kidney failure, high blood pressure, liver scarring, portal hypertension, and end-stage kidney disease.

• #31 Autosomal recessive polycystic kidney disease – Wikipedia

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

  ARPKD is a significant hereditary renal disease in that appears in childhood. The prevalence is estimated to be of 1 in 20,000 live births, with a reported carrier frequency of up to 1:70. […] Ultrasonography is the primary method to evaluate autosomal recessive polycystic kidney disease, particularly in the perinatal and neonatal stages.

• #32 Polycystic Kidney Disease – Armando Hasudungandownloadbookprintpencilchevron-leftchevron-righttwitterfacebookhand-o-rightfilterchainlist-ulenvelopelinkedinangle-rightangle-upyoutubexinginstagramlong-arrow-uppaper-planepinterest-pwhatsappcommentingaddress-

  https://armandoh.org/disease/polycystic-kidney-disease/?srsltid=AfmBOopb0A2pRni3oPaphkrAPW4Jh4m8kbo2b8dlJrX8DDtzpMPwUJ2j

  ARPKD is primarily a disease of infants and children. The incidence is 1:20,000 births. The kidneys are enlarged, with small cysts, <5 mm, limited to the collecting tubules. [...] ~50% of affected neonates die of pulmonary hypoplasia, the result of oligohydramnios from severe intrauterine kidney disease. [...] ~80% of those who survive the neonatal period are still alive after 10 years [...] One-third will have developed end stage renal disease. [...] Enlarged kidneys may be detected soon after birth as bilateral abdominal masses. [...] Impaired urinary concentrating ability and metabolic acidosis ensue as tubular function deteriorates. [...] Hypertension often occurs in the first few years of life. [...] Kidney function deteriorates progressively from childhood into early adult life. [...] Longer-term survivors frequently develop complications of portal hypertension from periportal fibrosis. [...] Ultrasonography reveals large, echogenic kidneys. The diagnosis can be made in utero after 24 weeks of gestation in severe cases, but cysts generally become visible only after birth.

• #33 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. Fetuses or infants usually present with Potter syndrome, and they are more likely to develop severe renal insufficiency. Generally, patients die perinatally or in infancy. Liver involvement has been reported in adults with ARPKD who have survived the neonatal period and childhood. However, renal involvement is rarely expected in adulthood. […] Autosomal recessive polycystic kidney disease (ARPKD), the leading genetic cause of end-stage renal disease in children, is typically asymptomatic in heterozygote adults. The renal symptoms can arise even prenatally. On the other hand, autosomal dominant polycystic kidney disease is viewed as the main etiology of renal cyst formation in adulthood. Actually, patients diagnosed with ARPKD usually die perinatally or in infancy. Those who survive the neonatal period and childhood face a noticeable risk of early-onset renal insufficiency. ARPKD is typically manifested with early-onset decreased renal function. Approximately, more than 50% of patients require dialysis before they reach the age of 20. In contrast, liver symptoms, including progressive hepatic fibrosis and portal hypertension, are usually expected in adults.

• #34 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

  The clinical courses and complications in adulthood have not been described in detail. We may thus be facing novel challenges and even newly detected symptoms for this well-known disease as more and more adult ARPKD patients are being treated. […] 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.

• #35 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 thorough medical history and precise family pedigree seem helpful so as to make the exact diagnosis. However, in terms of adult-onset ARPKD cases, probands parents are usually old. […] Thus, 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. […] ARPKD is considered as a pediatric hereditary etiology of end-stage renal disease, even though the homozygote genotype in adults with late-onset renal manifestations in the absence of hepatic manifestations must not be misdiagnosed with ADPKD. Further evaluations into other factors, including modifier genes, epigenetic factors, and environmental aspects, are essential to explain the diversity of clinical manifestations. The prominence of NGS as a less invasive method compared to kidney biopsy has been surfaced, globally. As far as the early diagnosis is concerned, NGS methods are understood to be applicable even in the fetal stage.

• #36 A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy? | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-024-03642-7

  Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis. Its incidence rate is approximately 1/2000 and can lead to end-stage renal disease (ESRD) in approximately 15-30% childhood/early adolescent patients. Respiratory distress caused by pulmonary hypoplasia is the cause of death in 30-50% of newborns with ARPKD. […] Genetic testing can be particularly important in the diagnostic evaluation of patients with early-onset bilateral renal cystic disease and hepatic fibrosis with or without renal cysts in older patients. ARPKD patients may have extrarenal and extrahepatic manifestations including intracranial aneurysms, left ventricular hypertrophy, neurological abnormalities, abnormal ocular fundus, abdominal pain and deformities of the spine and limbs which can occur in patients of various ages and disease states.

• #37 Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

  https://www.mdpi.com/1422-0067/22/12/6523

  Note that prenatal diagnosis and termination of pregnancy are factors to consider in the epidemiology of the disease. […] The outcome of the genetic testing is essential for clinical management of comorbidities and complications associated with each disease, allowing informed genetic counselling and, in the future, precision medicine on a more specific basis.

• #38 Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=Autosomal-Recessive-Polycystic-Kidney-Disease-%28ARPKD%29-Panel

  Candidates for this test are patients with ARPKD. […] Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder characterized by enlarged kidneys with collecting duct cysts and congenital hepatic fibrosis due to ductal plate malformation (DPM) during development. […] Arterial hypertension often develops during the first months of life and affects up to 80% of children with ARPKD. […] Severity varies widely; and the most severe cases are often neonatal lethal, accounting for approximately 30% of ARPKD patients with pathogenic variants in PKHD1. […] Diagnosis is often made pre- or neonatally although some cases are diagnosed in childhood or adult life. […] Many who survive the newborn period progress to end stage renal disease (ESRD). […] Homozygous or compound heterozygous pathogenic variants in PKHD1 can be found in ~80% of autosomal recessive polycystic kidney disease (ARPKD) patients regardless of disease severity. […] Approximately 95% of affected individuals were found to have at least one pathogenic variant in PKHD1. […] Biallelic variants in CYS1 have been associated with autosomal recessive polycystic kidney disease (ARPKD), but currently the evidence is limited.

• #39 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 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. […] Mutations in the PKHD1 gene account for about 75% of ARPKD cases.

Zobacz więcej