Autosomal recessive polycystic kidney disease
Synonyms: AR-PKD
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.
Reference: Access aggregated data from Orphanet at Orphadata.
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?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
ARPKD/CHF Alliance
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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.