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Gitelman Syndrome: Report of Three Cases and Literature Review

吉特曼症候群:三個病例報告與文獻回顧

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摘要


吉特曼症候群是一少見的自體隱性,遺傳性的腎小管疾病,最早是在1966年由吉特曼等人提出。在此篇文章中,我們將報告三個病例:一是偶發性個案,另兩位是姐弟。他們實驗室數據均呈現典型低血鉀,代謝性鹼中毒,低血鎂,及低尿鈣。三個病人均接受口服方式補充鎂及鉀且規律門診追蹤。我們將於此篇中分析此三個病例,並做一文獻回顧。

並列摘要


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 ral 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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