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

Kohei Ueda; Noriko Makita; Hiroo Kawarazaki; Takayuki Fujiwara; Satoshi Unuma; Toshiaki Monkawa; Matsuhiko Hayashi; Toshiro Fujita

doi:10.2169/internalmedicine.51.6727

CASE REPORTS

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

Kohei Ueda, Noriko Makita, Hiroo Kawarazaki, Takayuki Fujiwara, Satoshi Unuma, Toshiaki Monkawa, Matsuhiko Hayashi, Toshiro Fujita

Author information

Kohei Ueda
Department of Nephrology and Endocrinology, University of Tokyo School of Medicine, Japan
Noriko Makita
Department of Nephrology and Endocrinology, University of Tokyo School of Medicine, Japan
Hiroo Kawarazaki
Division of Nephrology and Hypertension, Department of Internal Medicine, St. Marianna University School of Medicine, Japan
Takayuki Fujiwara
Department of Cardiology, University of Tokyo School of Medicine, Japan
Satoshi Unuma
Department of Nephrology and Endocrinology, University of Tokyo School of Medicine, Japan
Toshiaki Monkawa
Medical Education Center, Keio University School of Medicine, Japan
Matsuhiko Hayashi
Apheresis and Dialysis Center, Keio University School of Medicine, Japan
Toshiro Fujita
Department of Nephrology and Endocrinology, University of Tokyo School of Medicine, Japan

Keywords: hypokalemia, hypomagnesemia, hypocalciuria, Bartter syndrome, Gitelman's syndrome

JOURNAL OPEN ACCESS

2012 Volume 51 Issue 12 Pages 1549-1553

DOI https://doi.org/10.2169/internalmedicine.51.6727

Details

Abstract

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.

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