title: A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction.
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 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.
authors: The Second Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan.
authors: Akihiro
authors: A
authors: Kuma
authors: Masahito
authors: M
authors: Tamura
authors: Nana
authors: N
authors: Ishimatsu
authors: Tetsu
authors: T
authors: Miyamoto
authors: Ryota
authors: R
authors: Serino
authors: Shingo
authors: S
authors: Ishimori
authors: Naoya
authors: N
authors: Morisada
authors: Kazumoto
authors: K
authors: Iijima
authors: Sohsuke
authors: S
authors: Yamada
authors: Masaaki
authors: M
authors: Takeuchi
authors: Haruhiko
authors: H
authors: Abe
authors: Yutaka
authors: Y
authors: Otsuji
mesh_terms: D000328:Adult; D044466:Asian People; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D010375:Pedigree; D058949:Uromodulin / Q000235:genetics / Q000378:metabolism*
chemical_list: C548612:UMOD protein, human; D058949:Uromodulin