Send to

Choose Destination
See comment in PubMed Commons below
Intern Med. 2012;51(12):1549-53. Epub 2012 Jun 15.

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.

Author information

Department of Nephrology and Endocrinology, University of Tokyo School of Medicine, Japan.


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.

[Indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for J-STAGE, Japan Science and Technology Information Aggregator, Electronic
    Loading ...
    Support Center