Gitelman syndrome: report of three cases and literature review
Ya-Ting Lee1, I-Fan Wang, Tsung-Hsien Lin
1Department of Pediatrics, Kaohsiung Municipal Hsiao-Kang Hospital, Taiwan.
Abstract:
Gitelman syndrome (GS) is a rare autosomal recessive, inherited renal tubular disorder. Herein, we report three cases of GS, one sporadic case and two siblings. They have typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. All of them were treated with oral potassium and magnesium supplements. They received regular pediatric clinic follow-up to check electrolytes and monitor development. These three cases reminded us that doctors should be alert to unexplained hypokalemia, which is usually the initial presentation of GS.
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