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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.

DOI:10.4103/ijn.ijn_401_21
PMID:37234429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10208539/
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
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6eb/10208539/3abc3b500049/IJN-33-144-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6eb/10208539/3abc3b500049/IJN-33-144-g001.jpg

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本文引用的文献

1
Hypomagnesemia-Induced Cerebellar Syndrome-A Distinct Disease Entity? Case Report and Literature Review.低镁血症诱发的小脑综合征——一种独特的疾病实体?病例报告及文献综述
Front Neurol. 2020 Sep 8;11:968. doi: 10.3389/fneur.2020.00968. eCollection 2020.
2
The challenges of diagnosis and management of Gitelman syndrome.吉特曼综合征的诊断和治疗挑战。
Clin Endocrinol (Oxf). 2020 Jan;92(1):3-10. doi: 10.1111/cen.14104. Epub 2019 Oct 6.
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Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Gitelman 综合征:改善全球肾脏病预后组织(KDIGO)争议会议的共识和指导意见。
Kidney Int. 2017 Jan;91(1):24-33. doi: 10.1016/j.kint.2016.09.046.
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Severe hypomagnesaemia causing reversible cerebellopathy.严重低镁血症导致可逆性小脑病变。
Cerebellum. 2014 Oct;13(5):659-62. doi: 10.1007/s12311-014-0567-2.
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Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia.钙无反应性低钙血症性手足搐搦:伴有低钙血症的吉特曼综合征。
Case Rep Med. 2013;2013:197374. doi: 10.1155/2013/197374. Epub 2013 Sep 19.
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Gitelman syndrome.吉特曼综合征
BMJ Case Rep. 2013 Apr 11;2013:bcr2013009095. doi: 10.1136/bcr-2013-009095.
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Severe hypomagnesemia associated with reversible subacute ataxia and cerebellar hyperintensities on MRI.严重低镁血症伴可逆性亚急性共济失调及MRI显示小脑高信号。
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Quadriparesis in an adult--Gitelman syndrome.一名成人的四肢轻瘫——吉特曼综合征。
J Pak Med Assoc. 2011 Feb;61(2):182-4.
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Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
Clin Endocrinol (Oxf). 2002 Mar;56(3):413-8. doi: 10.1046/j.1365-2265.2002.01223.x.
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A new familial disorder characterized by hypokalemia and hypomagnesemia.一种以低钾血症和低镁血症为特征的新型家族性疾病。
Trans Assoc Am Physicians. 1966;79:221-35.