Catalog

Autosomal dominant tubulointerstitial disease Type 2

No MMS code

Link to WHO Definition

Autosomal dominant tubulointerstitial disease Type 2 – http://id.who.int/icd/entity/387067249

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 hyperuricaemic nephropathy.