MUC1-related autosomal dominant tubulointerstitial kidney disease
ORPHA:88949· ICD-10 Q61.5
Definition
A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Adult