medullary cystic kidney disease 2
medullary cystic kidney disease 2An 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.
Caused by defects of UMOD, which encodes uromodulin, the most abundant protein in urine.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.