Adult Gitelman Syndrome: Case Report and Review of the Literature
Keywords:
gitelman, hypokalemia, hypomagnesemia, hypocalciuriaAbstract
Gitelman Syndrome, the most frequently detected hereditary tubulopathy in adults, was first described by Gitelman et al. in 1966 in 3 adults who presented with tetany associated with hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria,. The estimated prevalence of Gitelman syndrome, which is considered as a variant of Bartter syndrome with autosomal recessive inheritance, is reported as 1:40,000. In this article, a case diagnosed with Gitelman Syndrome, who was hospitalized many times, including the intensive care unit, with symptoms such as constipation, weakness, nausea and vomiting since childhood is presented.
References
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Amin J. Barakat, Owen M. Rennert. Gitelman's Syndrome (Familial Hypokalemia-hypomagnesemia): J Nephrol 2001; 14: 43-7
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Sabath E, Meade P. Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease Am J Physiol Renal Physiol 2004:287: F195-F203.
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