Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Definition
A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).
Also known as ADTKD, autosomal dominant interstitial kidney disease, autosomal dominant medullary cystic kidney disease, autosomal dominant medullary cystic kidney disease with or without hyperuricemia — per MONDO