About Autosomal Recessive Polycystic Kidney Disease
Autosomal recessive polycystic kidney disease is a severe fibrocystic disorder caused by mutations in PKHD1, encoding fibrocystin/polyductin, leading to bilateral renal enlargement with collecting duct ectasia and congenital hepatic fibrosis. Severe neonatal cases present with pulmonary hypoplasia due to oligohydramnios and carry high early mortality, while milder cases surviving infancy develop progressive renal failure and hepatic complications including portal hypertension. Unlike ADPKD, both kidneys and liver are invariably affected.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Autosomal Recessive Polycystic Kidney Disease trials.
Genetic confirmation of biallelic PKHD1 mutations is required for most ARPKD trials; ensure both parents are tested if de novo variants are uncertain.
Hepatic involvement (fibrosis grade, portal pressure) is a critical co-eligibility variable, as some trials address kidney-predominant and others liver-predominant disease.
Paediatric trials frequently have age and weight thresholds; confirm enrolment windows with the coordinating centre, especially for neonatal or early infantile cases.
Patient Resources
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