Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Oct 24:2020:6263721.
doi: 10.1155/2020/6263721. eCollection 2020.

Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review

Xueting Li  1 , Ruofei Chen  2 , Mingwei Chen  1
Affiliations
Case Reports

Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review

Xueting Li et al. Case Rep Med. .

Abstract

The present study reported clinical characteristics and the results of gene mutation analysis of 3 Chinese patients with Gitelman syndrome (GS). Three patients manifested with normal blood pressure, recurrent hypokalemia, and metabolic alkalosis. Only case 2 had obvious hypomagnesemia. Gene sequencing showed a compound heterozygous mutation in SCL12A3 in case 1 and a homozygous mutation in SCL12A3 in case 2. Heterozygous mutations in SCL12A3 and CLCNKB were found in case 3. Then, the literature was reviewed. The keyword "Gitelman syndrome" was inputted into the PubMed, Wanfang Database, and CNK to search all Chinese patients with GS diagnosed by gene mutations and to extract complete clinical data from December 1998 to 2018. Finally, a total of 124 cases of GS were included. No significant differences in the levels of serum potassium and magnesium were observed among the different gene mutations, and the serum magnesium levels in adults were lower than those of the juvenile. GS with reduced blood magnesium had a serious clinical phenotype. Therefore, GS had a diverse phenotype, and its final diagnosis required genetic profiling. The relationship of gene mutation and clinical phenotype needed further study.

PubMed Disclaimer

Conflict of interest statement

The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
Family tree of the case 3 families who suffer from hypokalemia. Square = male, circle = female.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Gitelman H. J., Graham J. B., Welt L. G. A new familial disorder characterized by hypokalemia and hypomagnesemia. Transactions of the Association of American Physicians. 1996;79:221–235. - PubMed
    1. Zelikovic I., Szargel R., Hawash A., et al. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney International. 2003;63(1):24–32. doi: 10.1046/j.1523-1755.2003.00730.x. - DOI - PubMed
    1. Ohkubo K., Matsuzaki T., Yuki M., et al. A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration. Meta Gene. 2014;2:342–348. doi: 10.1016/j.mgene.2014.04.005. - DOI - PMC - PubMed
    1. Simon D. B., Bindra R. S., Mansfield T. A., et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nature Genetics. 1997;17(2):171–178. doi: 10.1038/ng1097-171. - DOI - PubMed
    1. Jeck N., Konrad M., Peters M., Weber S., Bonzel K. E., Seyberth H. W. Mutations in the chloride channel gene, CLCNKB, leading to a mixed bartter-gitelman phenotype. Pediatric Research. 2000;48(6):754–758. doi: 10.1203/00006450-200012000-00009. - DOI - PubMed

Publication types

LinkOut - more resources