Case Report

Rare presentation of Gitelman syndrome: a case report and literature review

Rare presentation of Gitelman syndrome

Abstract

Gitelman Syndrome (GS), also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder. GS presents with a specific defect in kidney function, that leads to hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Here, we present a 30-year-old woman without a medical history. She experienced an episode of tonic-clonic seizure, generalized muscle weakness, and severe hyponatremia as the first presentation of GS. The interesting point of this case was her late-onset presentation and the long period of her disease diagnosis; thus, it highlights the importance of considering this diagnosis.

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IssueVol 6 No 1 (2021) QRcode
SectionCase Report(s)
Published2021-05-15
DOI https://doi.org/10.18502/crcp.v6i1.5954
Keywords
Gitelman syndrome Hyponatremia

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How to Cite
1.
Khajavirad N, Shakiba S, Abbaszadeh M, Karimpour Reyhan S. Rare presentation of Gitelman syndrome: a case report and literature review. CRCP. 2021;6(1):20-24.