Article
A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction.
Internal medicine (Tokyo, Japan) - 1 Jan 2015
Kuma Akihiro, Tamura Masahito, Ishimatsu Nana, Miyamoto Tetsu, Serino Ryota, Ishimori Shingo, Morisada Naoya, Iijima Kazumoto, Yamada Sohsuke, Takeuchi Masaaki, Abe Haruhiko, Otsuji Yutaka
Abstract excerpt
Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by a mutation in the uromodulin (UMOD) gene, leading to end-stage renal disease. We herein report the case of a family with UAKD caused by a novel mutation (C135G) in the UMOD gene. A 31-year-old woman had a low e...
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