Gitelman syndrome: report of three cases and literature review.
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.
Lee
Ya-Ting
YT
Department of Pediatrics, Kaohsiung Municipal Hsiao-Kang Hospital, Taiwan.
Wang
I-Fan
IF
Lin
Tsung-Hsien
TH
Huang
Chia-Tsuan
CT
D000293:Adolescent; D000471:Alkalosis / Q000628:therapy*; D002118:Calcium / Q000652:urine*; D005260:Female; D006801:Humans; D007008:Hypokalemia / Q000628:therapy*; D008274:Magnesium / Q000627:therapeutic use; D008275:Magnesium Deficiency / Q000628:therapy*; D008297:Male; D011189:Potassium Chloride / Q000627:therapeutic use; D015499:Renal Tubular Transport, Inborn Errors / Q000628:therapy*; D049992:Sodium Chloride Symporters / Q000235:genetics; D013577:Syndrome
D049992:Sodium Chloride Symporters; D011189:Potassium Chloride; D008274:Magnesium; D002118:Calcium