Gitelman Syndrome: Report of Three Cases and Literature Review
Ya‐Ting Lee, I‐Fan Wang, Tsung‐Hsien Lin, Chia‐Tsuan Huang
Abstract
Ya‐Ting Lee, I‐Fan Wang, Tsung‐Hsien Lin, Chia‐Tsuan Huang
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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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.
Key concepts: Hypokalemia, Medicine, Hypomagnesemia, Hypocalciuria, Metabolic alkalosis, Pediatrics, Gitelman syndrome, Presentation (obstetrics)