Inheritance of an Autosomal Recessive Disorder, Gitelmans Syndrome, Across Two Generations in One Family
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概要
- 論文の詳細を見る
Gitelmans syndrome (GS) is an autosomal recessive disorder; it is rarely inherited over several generations. A 16-year-old boy showed hypokalemia and hypocalciuria. Clinically, he was diagnosed as GS because of diuretic responsiveness to furosemide but not thiazide. Genetic testing disclosed he was a compound heterozygote (T180K/V677M) for the SLC12A3 gene. Unexpectedly, the patients father also showed hypokalemia and hypocalciuria. The genetic analysis showed he had an L849H mutation in addition to T180K. The present pedigree showed an extremely rare case. Diuretic tests are useful diagnostic methods, and genetic testing is necessary for precise evaluation of complicated cases as in this family.
著者
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Usui Takeshi
Clinical Research Institute Division Of Endocrinology And Metabolism Kyoto Medical Center National H
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Yahata Kensei
Department Of Medicine And Clinical Science Kyoto University Graduate School Of Medicine
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Sugawara Akira
Department Of Advanced Biological Sciences For Regeneration (kotobiken Medical Laboratories) Tohoku
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Seta Koichi
Department Of Nephrology National Hospital Organization Kyoto Medical Center
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Yahata Kensei
Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan
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Hasegawa Chinatsu
Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan
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Yagi Hiroki
Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan
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Seta Koichi
Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan
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Usui Takeshi
Clinical Research Institute, Center for Endocrine and Metabolic Diseases, National Hospital Organization Kyoto Medical Center, Japan
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