genetic link found between two juvenile onset renal diseases

Geneticists from the University of Pittsburgh have discovered four novel gene mutations in the uromodulin gene which are responsible for two heritable kidney diseases, medullary cystic kidney disease 2 and familial juvenile hyperuricemic nephopathy, proving the two diseases are actually the same condition. These findings, published in the December issue of the Journal of Medical Genetics, will allow physicians to more effectively test and treat patients for this condition.

NIH/National Institute of Diabetes and Digestive Kidney Diseases

Contact:
Jocelyn Uhl
412-647-3555
University of Pittsburgh Medical Center

Message posted by: Wouter Kalle