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Saudi J Kidney Dis Transpl ; 27(2): 407-10, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26997401

ABSTRACT

Gitelman's syndrome is characterized by hypocalciuria, severe hypomagnesemia, and prominent muscular involvements such as fatigue, weakness, cramps, and tetany. It is due to mutations in the thiazide sensitive NaCl co-transporter in the distal convoluted tubule. The administration of thiazide diuretics may induce a subnormal increase of urinary Cl(-) excretion in patients with Gitelman's syndrome, consistent with the hypothesis that less than normal Cl(-) is reabsorbed by the thiazide-inhibitable transporter in Gitelman's syndrome. Thus, we report a case of Gitelman's syndrome presenting with quadriparesis diagnosed by using thiazide clearance test.


Subject(s)
Gitelman Syndrome/diagnosis , Quadriplegia/etiology , Sodium Chloride Symporter Inhibitors/administration & dosage , Genetic Predisposition to Disease , Gitelman Syndrome/complications , Gitelman Syndrome/drug therapy , Gitelman Syndrome/genetics , Humans , Male , Middle Aged , Mutation , Phenotype , Predictive Value of Tests , Solute Carrier Family 12, Member 3/drug effects , Solute Carrier Family 12, Member 3/genetics , Solute Carrier Family 12, Member 3/metabolism , Treatment Outcome
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