UMOD-related autosomal dominant tubulointerstitial kidney disease
ORPHA:88950· ICD-10 Q61.5
Definition
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult