Orphanet: Autosomal dominant polycystic kidney disease

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Autosomal dominant polycystic kidney disease

Disease definition

A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).


Classification level: Disorder
  • Synonym(s):
    • ADPKD
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: Q61.2
  • OMIM: 173900  600666  613095
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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