title: A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene.
abstract: We report the case of a Japanese family suffering from familial juvenile hyperuricemic nephropathy (FJHN) due to a rare missense mutation of the uromodulin (UMOD) gene. An 18-year-old male presented with gout, hyperuricemia, and stage 3 chronic kidney disease. Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein. However, in the present case, a T688C mutation was identified in exon 4, resulting in amino acid substitution with arginine replacing tryptophan at position 230 (Trp230Arg). This mutation was also found in his brother and father with the same phenotype, indicating autosomal dominant inheritance. The affected amino acid was conserved in 200 healthy Japanese controls. Therefore, mutation T688C most likely causes rare structural and/or functional abnormalities in UMOD/Tamm-Horsfall protein.
authors.affiliation: Division of Nephrology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Mayuka
authors.initials: M
authors.lastname: Nakayama
authors.forename: Yasukiyo
authors.initials: Y
authors.lastname: Mori
authors.forename: Noriyoshi
authors.initials: N
authors.lastname: Ota
authors.forename: Mami
authors.initials: M
authors.lastname: Ishida
authors.forename: Yayoi
authors.initials: Y
authors.lastname: Shiotsu
authors.forename: Eiko
authors.initials: E
authors.lastname: Matsuoka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kado
authors.forename: Ryo
authors.initials: R
authors.lastname: Ishida
authors.forename: Mayumi
authors.initials: M
authors.lastname: Nakata
authors.forename: Takashi
authors.initials: T
authors.lastname: Kitani
authors.forename: Keiichi
authors.initials: K
authors.lastname: Tamagaki
authors.forename: Chieko
authors.initials: C
authors.lastname: Sekita
authors.forename: Atsuo
authors.initials: A
authors.lastname: Taniguchi