Identification of a novel UMOD mutation (c. 163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease
Braz. j. med. biol. res; 51 (3), 2018
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confi...