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REN-related autosomal dominant tubulointerstitial kidney disease

ORPHA:217330· ICD-10 Q61.5

Definition

A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Childhood, Infancy