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 |
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Pages (from-to) | 1549-1553 |
Number of pages | 5 |
Journal | Internal Medicine |
Volume | 51 |
Issue number | 12 |
DOIs | |
Publication status | Published - 2012 |
Keywords
- Bartter syndrome
- Gitelman's syndrome
- Hypocalciuria
- Hypokalemia
- Hypomagnesemia
ASJC Scopus subject areas
- Internal Medicine