medullary cystic kidney disease 2

medullary cystic kidney disease 2

An autosomal dominant form (OMIM:603860) of tubulointerstitial nephropathy characterised by renal cysts at the corticomedullary junction, impaired renal function of adult onset, and salt-wasting resulting in end-stage renal failure by the sixth decade of life.

Molecular pathology
Caused by defects of UMOD, which encodes uromodulin, the most abundant protein in urine.
References in periodicals archive ?
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.