上海交通大学学报（医学版）

上海交通大学学报（医学版） >

2022 , Vol. 42 >Issue 2: 253 - 258

DOI: https://doi.org/10.3969/j.issn.1674-8115.2022.02.019

病例报告

正常血镁Gitelman综合征1例的临床表现及基因诊断分析

  • 周建华 ,
  • 李晓华 ,
  • 张宏利
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  • 上海中医药大学附属第七人民医院内分泌代谢科，上海 200137
周建华（1981—），女，主治医师，硕士；电子信箱：642135341@qq.com。
张宏利，电子信箱：hongliting@sina.com。

收稿日期: 2021-08-19

  网络出版日期: 2022-03-17

基金资助

海派石氏伤科中医流派浦东基地工作室建设(PDZY-2019-0705)

收起

Clinical manifestation and gene diagnosis of Gitelman syndrome with normal blood magnesium in 1 case

  • Jianhua ZHOU ,
  • Xiaohua LI ,
  • Hongli ZHANG
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  • Department of Endocrinology and Metabolism, the Seventh People's Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai 200137, China
ZHANG Hongli, E-mail: hongliting@sina.com.

Received date: 2021-08-19

  Online published: 2022-03-17

Supported by

Studio Construction of Pudong Base of Shanghai Traumatology Traditional Chinese Medicine School(PDZY-2019-0705)

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摘要

目的·分析1例正常血镁Gitelman综合征患者的临床特点及其SLC12A3基因的突变特点。方法·以1例拟诊断为Gitelman综合征的患者为研究对象，分析其临床表现及辅助检查结果，并行SLC12A3基因和CLCNKB基因检测以明确诊断。结果·该患者成年起病，临床表现为低血钾、正常血镁、低尿钙，排除长期使用噻嗪类利尿剂、泻药，慢性腹泻和呕吐可能，诊断为Gitelman综合征。采用Sanger直接测序法，在SLC12A3基因检测到致病突变c.1084G>A和c.1850G>A，均被证实是新发现的突变位点。结论·基因检测有助于早期明确诊断Gitelman综合征并改善其预后。

关键词： Gitelman综合征; 低钾血症; SLC12A3基因

本文引用格式

周建华 , 李晓华 , 张宏利 . 正常血镁Gitelman综合征1例的临床表现及基因诊断分析[J]. 上海交通大学学报（医学版）, 2022 , 42(2) : 253 -258 . DOI: 10.3969/j.issn.1674-8115.2022.02.019

Abstract

Objective

·To analyze the clinical characteristics and SLC12A3 gene mutation of a patient with normal blood magnesium Gitelman syndrome.

Methods

·A patient with Gitelman syndrome was studied. The clinical manifestations and auxiliary examination results were analyzed, and SLC12A3 gene and CLCNKB gene were detected to make a definite diagnosis.

Results

·The patient developed into an adult with clinical manifestations of low blood potassium, normal blood magnesium and low urinary calcium. The possibility of long-term use of thiazide diuretics, laxatives, chronic diarrhea and vomiting was ruled out, and Gitelman syndrome was diagnosed. The pathogenic mutations c.1084G>A and c.1850G>A in SLC12A3 gene were detected by Sanger direct sequencing, which were confirmed to be the new mutation sites found in this study.

Conclusion

·Gene detection is helpful to early diagnosis of Gitelman syndrome and improves its prognosis.

Key words： Gitelman syndrome; hypokalemia; SLC12A3 gene

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