Journal of Shanghai Jiao Tong University (Medical Science) >

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

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

Case report

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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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

Cite this article

Jianhua ZHOU , Xiaohua LI , Hongli ZHANG . Clinical manifestation and gene diagnosis of Gitelman syndrome with normal blood magnesium in 1 case[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022 , 42(2) : 253 -258 . DOI: 10.3969/j.issn.1674-8115.2022.02.019

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