A Novel Compound Heterozygous Mutation of Gitelman's Syndrome in Japan, as Diagnosed by an Extraordinary Response of the Fractional Excretion Rate of Chloride in the Trichlormethiazide Loading Test
スポンサーリンク
概要
- 論文の詳細を見る
Gitelman's syndrome (GS), an inherited disorder due to loss of function of ion channels and transporters such as Na-Cl co-transporter (NCCT) in distal convoluted tubules, is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hyperreninemic-hyperaldosteronism. A 39-year-old man was admitted to our hospital because of muscle weakness with such intractable disorders. We performed a thiazide-loading test, which revealed a poor response of the fractional excretion rate of chloride compared to healthy subjects. Based on these data, the clinical diagnosis of GS was made. Gene-sequencing analysis revealed compound heterozygous mutations of c.539C > A and c.1844C > T in SLC12A3, which is newly reported in Japanese GS.
著者
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Fujita Toshiro
Department Of Cardiovascular Medicine University Of Tokyo School Of Medicine
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Fujiwara Takayuki
Department Of Allied Medical Science Shinshu University
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Hayashi Matsuhiko
Apheresis And Dialysis Center Keio University School Of Medicine
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Makita Noriko
Department Of Endocrinology And Nephrology The University Of Tokyo School Of Medicine
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Makita Noriko
Department of Nephrology and Endocrinology, University of Tokyo School of Medicine, Japan
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Monkawa Toshiaki
Medical Education Center, Keio University School of Medicine, Japan
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Ueda Kohei
Department of Nephrology and Endocrinology, University of Tokyo School of Medicine, Japan
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Ueda Kohei
Department of Cardiovascular Internal Medicine, Minami Osaka Hospital, Japan
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Kawarazaki Hiroo
Division of Nephrology and Hypertension, Department of Internal Medicine, St. Marianna University School of Medicine, Japan
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Unuma Satoshi
Department of Nephrology and Endocrinology, University of Tokyo School of Medicine, Japan
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