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European Journal of General Medicine
Medical Investigations Society
ISSN: 1304-3897
Vol. 6, No. 2, 2009, pp. 127-130
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Bioline Code: gm09028
Full paper language: English
Document type: Case Report
Document available free of charge
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European Journal of General Medicine, Vol. 6, No. 2, 2009, pp. 127-130
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Gitelman’s Syndrome: A Hereditary Disorder Characterized by Hypokalemia and Hypomagnesaemia
Slovacek, Ladislav
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.
Keywords
Gitelman’s syndrome, hypokalemia, hypomagnesaemia, hereditary tubulopathy
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