Preferred Label : Autosomal dominant tubulointerstitial disease Type 2;
ICD-11 definition : An autosomal dominant condition characterised by chronic tubulointerstitial nephritis,
hyperuricemia and gout, with progression to end-stage renal failure usually in the
5-8th decades of life. Medullary cysts are not characteristic, hence the term medullary
cystic kidney disease type 2 is a historically based misnomer. The gene responsible
codes for uromodulin/Tamm Horsfall mucoprotein (UMOD) on Chromosome 16, with many
mutations described to date. Salt losing is not characteristic, hypertension is usual.
May be the same disease as familial hyperuricemic nephropathy.;
ICD-11 synonym : MCKD type 2; medullary cystic kidney disease, Type 2; ATDKD-UMOD - [Autosomal dominant tubulointerstitial disease-uromodulin]; MCKD - [medullary cystic kidney disease] type 2; Autosomal dominant tubulointerstitial disease-uromodulin;
ICD-11 acronym : ATDKD-UMOD;
ICD-11 inclusion : Uromodulin associated kidney disease; Uromodulin kidney disease;
Origin ID : 387067249;
Automatic exact mappings (from CISMeF team)
An autosomal dominant condition characterised by chronic tubulointerstitial nephritis,
hyperuricemia and gout, with progression to end-stage renal failure usually in the
5-8th decades of life. Medullary cysts are not characteristic, hence the term medullary
cystic kidney disease type 2 is a historically based misnomer. The gene responsible
codes for uromodulin/Tamm Horsfall mucoprotein (UMOD) on Chromosome 16, with many
mutations described to date. Salt losing is not characteristic, hypertension is usual.
May be the same disease as familial hyperuricemic nephropathy.
