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

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 al...

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Detalles Bibliográficos
Autores principales: Nakayama, Mayuka, Mori, Yasukiyo, Ota, Noriyoshi, Ishida, Mami, Shiotsu, Yayoi, Matsuoka, Eiko, Kado, Hiroshi, Ishida, Ryo, Nakata, Mayumi, Kitani, Takashi, Tamagaki, Keiichi, Sekita, Chieko, Taniguchi, Atsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2012
Materias:
Published: March, 2012
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482064/
https://www.ncbi.nlm.nih.gov/pubmed/23197950
http://dx.doi.org/10.1159/000337343

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