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

doi:10.3969/j.issn.1674-8115.2022.02.019

Abstract

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

CLC Number:

R692.6

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 JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2022, 42(2): 253-258.

Figures/Tables 5

Fig 1 Dual energy CT of hands

Fig 2 Pathogenic mutation c.1084G>A detected in exon 8 of SLA12A3 gene

Fig 3 Pathogenic mutation c.1850A>G detected in exon 15 of SLA12A3 gene

Fig 4 Predicted topological localization of NCCT mutations

Fig 5 Predicted structure of the protein

TrendMD

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