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 | |
| Publication status | Published - 2012 |
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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 journal › Article
}
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 -