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[一名11岁男孩的吉特林综合征:偶然发现还是延迟诊断?]

[Gitelman syndrome in a 11 year old boy: incidental or delayed diagnosis?].

作者信息

Gamboni A, Perino A, Montrasio G

机构信息

Divisione di Pediatria, Azienda Ospedaliera di Busto Arsizio, VA.

出版信息

Pediatr Med Chir. 2003 Jan-Feb;25(1):58-9.

Abstract

Gitelman syndrome (GS) is a heritable renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. Patients with GS usually have mild symptoms as muscular weakness and cramps, and they often are diagnosed in older age during routine investigation. We report a 11 year old boy with GS.

摘要

吉特曼综合征(GS)是一种遗传性肾脏疾病,其特征为低钾血症、低镁血症、代谢性碱中毒和低钙尿症。GS患者通常有肌肉无力和痉挛等轻微症状,且常在常规检查中于较年长时被诊断出来。我们报告了一名患有GS的11岁男孩。

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