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 journalArticle

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 languageEnglish
Pages (from-to)1549-1553
Number of pages5
JournalInternal Medicine
Volume51
Issue number12
DOIs
Publication statusPublished - 2012

Fingerprint

Trichlormethiazide
Gitelman Syndrome
Chlorides
Japan
Mutation
Symporters
Thiazides
Alkalosis
Hyperaldosteronism
Hypokalemia
Muscle Weakness
Ion Channels
Healthy Volunteers
Genes

Keywords

  • Bartter syndrome
  • Gitelman's syndrome
  • Hypocalciuria
  • Hypokalemia
  • Hypomagnesemia

ASJC Scopus subject areas

  • Internal Medicine

Cite this

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 journalArticle

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.
@article{b8a9554070a44458af84da4df699e8ae,
title = "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",
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",
year = "2012",
doi = "10.2169/internalmedicine.51.6727",
language = "English",
volume = "51",
pages = "1549--1553",
journal = "Internal Medicine",
issn = "0918-2918",
publisher = "Japanese Society of Internal Medicine",
number = "12",

}

TY - JOUR

T1 - 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

AU - Ueda, Kohei

AU - Makita, Noriko

AU - Kawarazaki, Hiroo

AU - Fujiwara, Takayuki

AU - Unuma, Satoshi

AU - Monkawa, Toshiaki

AU - Hayashi, Matsuhiko

AU - Fujita, Toshiro

PY - 2012

Y1 - 2012

N2 - 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.

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.

KW - Bartter syndrome

KW - Gitelman's syndrome

KW - Hypocalciuria

KW - Hypokalemia

KW - Hypomagnesemia

UR - http://www.scopus.com/inward/record.url?scp=84863007293&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84863007293&partnerID=8YFLogxK

U2 - 10.2169/internalmedicine.51.6727

DO - 10.2169/internalmedicine.51.6727

M3 - Article

C2 - 22728489

AN - SCOPUS:84863007293

VL - 51

SP - 1549

EP - 1553

JO - Internal Medicine

JF - Internal Medicine

SN - 0918-2918

IS - 12

ER -