Autosomal recessive polycystic kidney disease
A rare genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation whilst typically in utero or at birth is variable and in the most severe cases includes Potter-sequence oligohydramnios pulmonary hypoplasia and massively enlarged echogenic kidneys.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Autosomal recessive polycystic kidney disease?
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To educate, advocate, support, and advance research specific to Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.