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

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

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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, hypo-magnesemia, 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.

Original language	English
Pages (from-to)	1549-1553
Number of pages	5
Journal	Internal Medicine
Volume	51
Issue number	12
DOIs	https://doi.org/10.2169/internalmedicine.51.6727
Publication status	Published - 2012

Keywords

Bartter syndrome
Gitelman's syndrome
Hypocalciuria
Hypokalemia
Hypomagnesemia

ASJC Scopus subject areas

Internal Medicine

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Ueda, K., Makita, N., Kawarazaki, H., Fujiwara, T., Unuma, S., Monkawa, T., Hayashi, M., & Fujita, T. (2012). 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. Internal Medicine, 51(12), 1549-1553. https://doi.org/10.2169/internalmedicine.51.6727

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

In: Internal Medicine, Vol. 51, No. 12, 2012, p. 1549-1553.

Research output: Contribution to journal › Article › peer-review

Ueda, K, Makita, N, Kawarazaki, H, Fujiwara, T, Unuma, S, Monkawa, T, Hayashi, M & Fujita, T 2012, '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', Internal Medicine, vol. 51, no. 12, pp. 1549-1553. https://doi.org/10.2169/internalmedicine.51.6727

Ueda, Kohei ; Makita, Noriko ; Kawarazaki, Hiroo ; Fujiwara, Takayuki ; Unuma, Satoshi ; Monkawa, Toshiaki ; Hayashi, Matsuhiko ; Fujita, Toshiro. / 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. In: Internal Medicine. 2012 ; Vol. 51, No. 12. pp. 1549-1553.

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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, hypo-magnesemia, 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.",

keywords = "Bartter syndrome, Gitelman's syndrome, Hypocalciuria, Hypokalemia, Hypomagnesemia",

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

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AU - Fujiwara, Takayuki

AU - Unuma, Satoshi

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AU - Hayashi, Matsuhiko

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AB - 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, hypo-magnesemia, 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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