Article
Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.
Wiener klinische Wochenschrift - 1 Apr 2016
Raffler Gabriele, Zitt Emanuel, Sprenger-Mähr Hannelore, Nagel Mato, Lhotta Karl
Abstract excerpt
BACKGROUND: Uromodulin (UMOD)-associated kidney disease belongs to the group of autosomal dominant interstitial kidney diseases and is caused by mutations in the UMOD gene. Affected patients present with hyperuricemia, gout, and progressive renal failure. The disease is thought to be very rare but is probably underdiagnosed. METHODS: Two index patients from two families with tubulointerstitial nephropathy and...
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