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Vol. 2, No. 1, 2012
Issue release date: January – June
Section title: Published: March 2012

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Case Rep Nephrol Urol 2012;2:15–19

A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene

Nakayama M.a · Mori Y.a · Ota N.a · Ishida M.a · Shiotsu Y.a · Matsuoka E.a · Kado H.a · Ishida R.a · Nakata M.a · Kitani T.a · Tamagaki K.a · Sekita C.b · Taniguchi A.b
aDivision of Nephrology, Kyoto Prefectural University of Medicine, Kyoto, and bInstitute of Rheumatology, Tokyo Women’s Medical University, Tokyo, Japan
email Corresponding Author

Yasukiyo Mori, MD, PhD

Division of Nephrology, Kyoto Prefectural University of Medicine

465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyou-ku

Kyoto 602-8566 (Japan)

Tel. +81 75 251 5511, E-Mail

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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.

© 2012 S. Karger AG, Basel

Article / Publication Details

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Abstract of Published: March 2012

Published online: 3/14/2012
Issue release date: January – June

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 0

ISSN: (Print)
eISSN: 2296-9705 (Online)

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