Orphanet: Autosomal dominant tubulointerstitial kidney disease

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Autosomal dominant tubulointerstitial kidney disease

Disease definition

A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).


Classification level: Disorder
  • Synonym(s):
    • ADTKD
    • Familial juvenile hyperuricemic nephropathy
    • MCKD
    • Medullary cystic kidney disease
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: Q61.5
  • ICD-11: GB82
  • OMIM: 137920  162000  174000
  • UMLS: -
  • MeSH: -
  • GARD: 10801
  • MedDRA: -

Detailed information


Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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