1例误诊尿崩症的Gitelman综合征病例分析

王莉华; 彭超; 刘维娟; 冉东川; 何艳; 王怡

doi:10.7619/jcmp.20211480

1例误诊尿崩症的Gitelman综合征病例分析

重庆大学附属三峡医院内分泌代谢科, 重庆, 404000

基金项目:

重庆市万州区社会发展领域（医疗卫生类）科技计划指导性项目 wzstc-2001903009

详细信息

通讯作者:
王怡, E-mail: 19546314@qq.com

中图分类号: R58;R725.8
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- 文章访问数: 353
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- PDF下载量: 37
出版历程
- 收稿日期: 2021-04-05
- 网络出版日期: 2021-07-25
- 发布日期: 2021-07-27

A case report of Gitelman syndrome misdiagnosed as diabetes insipidus

Department of Endocrinology and Metabolism, Chongqing University Three Gorges Hospital, Chongqing, 404000

摘要

摘要: Gitelman综合征（GS）是一种常染色体隐性遗传所致的失盐性肾小管疾病，以低钾性碱中毒、低镁血症、低钙尿症和继发性醛固酮增多症为主要表现。本研究报道了1例误诊尿崩症的GS患儿的诊治过程，同时通过文献复习的方式探讨GS的临床表现、诊断方法、治疗及随访策略，并强调基因检测在本病诊断过程中的重要性。临床医师在工作中应提高对GS的认识水平，做到早期诊断并治疗GS。
- Gitelman综合征 /
- SLC12A3基因 /
- 低血钾 /
- 家族性低钾-低镁血症
Abstract: Gitelman syndrome (GS) is an autosomal recessive disease of salinized renal tubules, mainly characterized by hypokalemic alkalosis, hypopagnesemia, hypocalcinuria, and secondary aldosteronism. In this study, we reported the diagnosis and treatment of a child with GS misdiagnosed as diabetes insipidus. Meanwhile, the clinical manifestations, diagnostic methods, treatment and follow-up strategies of GS were discussed through literature review, and the importance of genetic testing in the diagnosis of this disease was emphasized. Clinicians should improve their understanding of GS in their work, and make early diagnosis and treatment of GS.
- Gitelman syndrome /
- SLC12A3 gene /
- hypokalemia /
- familial hypokalemia-hypomagnesemia

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图 1 患儿基因测序及家系验证结果

A: 患儿-纯合变异; B: 患儿母亲-杂合变异; C: 患儿姐姐-纯合变异; D: 患儿侄女-杂合变异。

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参考文献(27)

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