Autosomal recessive polycystic kidney disease

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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: // Data version September 2023.

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Autosomal recessive polycystic kidney disease?

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