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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).

ORPHA:34149

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
  • OMIM: 162000  174000  609886
  • UMLS: -
  • MeSH: -
  • GARD: 10801
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.