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Autosomal recessive polycystic kidney disease

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • AR-PKD
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: Q61.1
  • ICD-11: GB8Y
  • OMIM: 263200  617610
  • UMLS: C0085548
  • MeSH: D017044
  • GARD: 8378
  • MedDRA: 10036047

Detailed information

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Disease review articles

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