A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene
| Autor: | Mayumi Nakata, Yasukiyo Mori, Eiko Matsuoka, Atsuo Taniguchi, Yayoi Shiotsu, Ryo Ishida, Mami Ishida, Hiroshi Kado, Chieko Sekita, Keiichi Tamagaki, Mayuka Nakayama, Noriyoshi Ota, Takashi Kitani |
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| Rok vydání: | 2012 |
| Předmět: |
Microbiology (medical)
Genetics Familial juvenile hyperuricemic nephropathy medicine.medical_specialty Tamm–Horsfall protein Immunology Biology Gene mutation medicine.disease Gene Gout Exon Endocrinology Published: March 2012 Chronic kidney disease Internal medicine Uromodulin Mutation (genetic algorithm) biology.protein medicine Immunology and Allergy Missense mutation Hyperuricemia mutation |
| Zdroj: | Case Reports in Nephrology and Urology |
| ISSN: | 1664-5510 |
| DOI: | 10.1159/000337343 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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