A Novel UMOD Gene Mutation Associated with Uromodulin-associated Kidney Disease in a Young Woman with Moderate Kidney Dysfunction

Akihiro Kuma; Masahito Tamura; Nana Ishimatsu; Tetsu Miyamoto; Ryota Serino; Shingo Ishimori; Naoya Morisada; Kazumoto Iijima; Sohsuke Yamada; Masaaki Takeuchi; Haruhiko Abe; Yutaka Otsuji

doi:10.2169/internalmedicine.54.3151

CASE REPORTS

A Novel UMOD Gene Mutation Associated with Uromodulin-associated Kidney Disease in a Young Woman with Moderate Kidney Dysfunction

Akihiro Kuma, Masahito Tamura, Nana Ishimatsu, Tetsu Miyamoto, Ryota Serino, Shingo Ishimori, Naoya Morisada, Kazumoto Iijima, Sohsuke Yamada, Masaaki Takeuchi, Haruhiko Abe, Yutaka Otsuji

Author information

Akihiro Kuma
The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Masahito Tamura
Kidney Center, University Hospital of Occupational and Environmental Health, Japan
Nana Ishimatsu
The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Tetsu Miyamoto
The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Ryota Serino
Kidney Center, University Hospital of Occupational and Environmental Health, Japan
Shingo Ishimori
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
Naoya Morisada
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
Kazumoto Iijima
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
Sohsuke Yamada
Department of Pathology and Cell Biology, School of Medicine, University of Occupational and Environmental Health, Japan
Masaaki Takeuchi
The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Haruhiko Abe
The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Yutaka Otsuji
The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan

Keywords: medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, uromodulin, UMOD, hyperuricemia, chronic kidney disease

JOURNAL OPEN ACCESS

2015 Volume 54 Issue 6 Pages 631-635

DOI https://doi.org/10.2169/internalmedicine.54.3151

Details

Abstract

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.

Corresponding author

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