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- Akihiro Kuma, Masahito Tamura, Nana Ishimatsu, Tetsu Miyamoto, Ryota Serino, Shingo Ishimori, Naoya Morisada, Kazumoto Iijima, Sohsuke Yamada, Masaaki Takeuchi, Haruhiko Abe, and Yutaka Otsuji.
- The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan.
- Intern. Med. 2015 Jan 1; 54 (6): 631635631-5.
AbstractUromodulin-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 estimated glomerular filtration rate (59.7 mL/min per 1.73 m(2)). Her father, grandfather and paternal aunt had received maintenance hemodialysis therapy since their 40's. This case underscores the importance of performing genetic testing in young patients even in cases involving only moderate abnormalities in the kidney function.
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