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表现为小脑共济失调和手足搐搦的吉特林综合征

Gitelman Syndrome Presenting with Cerebellar Ataxia and Tetany.

作者信息

Pandya Shalini, Shah Shalin, Dalal Sonal

机构信息

Consultant Physician and Diabetologist, Sterling Hospital, Ahmedabad, Gujarat, India.

Neurologist, Sterling Hospital, Ahmedabad, Gujarat, India.

出版信息

Indian J Nephrol. 2023 Mar-Apr;33(2):144-146. doi: 10.4103/ijn.ijn_401_21. Epub 2022 Nov 22.

Abstract

Gitelman syndrome (GS) is salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria, hyperreninemia, hyperaldosteronemia, metabolic alkalosis, and rarely hypocalcemia. Here, we describe the case of a 54-year-old man who presented with cerebellar signs and tetany. On investigation, he was found to have hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and high urinary chloride levels. On correction of metabolic parameters, he became asymptomatic. In cases of unexplained recurrent hypokalemia, hypocalcemia and hypomagnesemia, the diagnosis of GS should be considered.

摘要

吉特曼综合征(GS)是一种失盐性肾小管病,其特征为低钾血症、低镁血症、低钙尿症、高肾素血症、高醛固酮血症、代谢性碱中毒,且很少出现低钙血症。在此,我们描述一例54岁男性患者,其表现为小脑体征和手足搐搦。经检查,发现他患有低钾血症、低钙血症、低镁血症、代谢性碱中毒以及高尿氯水平。在代谢参数得到纠正后,他症状消失。对于不明原因的复发性低钾血症、低钙血症和低镁血症病例,应考虑吉特曼综合征的诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6eb/10208539/3abc3b500049/IJN-33-144-g001.jpg

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