A Novel <i>UMOD</i> Gene Mutation Associated with Uromodulin-associated Kidney Disease in a Young Woman with Moderate Kidney Dysfunction
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- Kuma Akihiro
- The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
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- Tamura Masahito
- Kidney Center, University Hospital of Occupational and Environmental Health, Japan
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- Ishimatsu Nana
- The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
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- Miyamoto Tetsu
- The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
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- Serino Ryota
- Kidney Center, University Hospital of Occupational and Environmental Health, Japan
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- Ishimori Shingo
- Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
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- Morisada Naoya
- Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
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- Iijima Kazumoto
- Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
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- Yamada Sohsuke
- Department of Pathology and Cell Biology, School of Medicine, University of Occupational and Environmental Health, Japan
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- Takeuchi Masaaki
- The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
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- Abe Haruhiko
- The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
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- Otsuji Yutaka
- The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
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抄録
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 estimated glomerular filtration rate (59.7 mL/min per 1.73 m2). 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.<br>
収録刊行物
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- Internal Medicine
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Internal Medicine 54 (6), 631-635, 2015
一般社団法人 日本内科学会