CASE REPORT
Gitelman's Syondrome: a Hereditary Disorder Characterized by Hypokalemia and Hypomagnesaemia
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University of Defence, Faculty of
Military Health Sciences, Department
of Field Internal Medicine, Hradec
Kralove, Czech Republic
Online publication date: 2009-04-15
Publication date: 2009-04-15
Corresponding author
Ladislav Slovacek
M.D., Ph.D., major
University of Defence, Faculty of
Military Health Sciences
Department of Field Internal Medicine
Trebesska Street 1575
500 01 Hradec Kralove 1
Czech Republic, European Union
Phone: +420-495-834520
Fax: +420-495-832011
Eur J Gen Med 2009;6(2):127-130
KEYWORDS
ABSTRACT
Gitelman’s syndrome is a type of hereditary tubular disorder,
which is caused by inactive mutations in the gene, which encodes
thiazide sensitive sodium chloride cotransporter (SLC12A3) in the
distal convoluted tubule. Biochemical characteristic is comparable
to effect of thiazide diuretics: hypokalemia, hypomagnesaemia,
hypocalciuria, hypokalemic alkalosis and blood pressure is normal
or lower. Gitelman’s syndrome is typically diagnosed accidentally
(hypokalemia) in adolescents or adults and the course is benign. If
present, the most prominent symptoms are muscular fatigue or occasional
tetany. Treatment includes magnesium and potassium salts
and potassium saving diuretics. We report here a case of an adult
patient with Gitelman’s syndrome. The patient was a bearer of
three heterozygote mutations in the gene, which encodes thiazide
sensitive sodium chloride cotransporter (SLC12A3) in the distal
convoluted tubule.