medullary cystic kidney disease 2

(redirected from ADMCKD2)

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.