Chinese Journal of Nephrology, Dialysis & Transplantation ›› 2019, Vol. 28 ›› Issue (2): 194-197.DOI: 10.3969/j.issn.1006-298X.2019.02.021
• Article • Previous Articles
Online:
Published:
Abstract:
A 18yearold male was characterized by weakness.And he primarily appeared hypokalemia,metabolicalkalosis,hypomagnesemia,hypochloremia,hypocalcinuria,high urinary potassium,hyperreninemia and hyperaldosteronemia.A new mutational site in SLC12A3 gene was found.The final diagnosis of the patient was Gitelman syndrome.He was given potassiumtherapy,and the patients weakness recovered gradually.
Key words: Gitelman syndrome, hypokaliemia, metabolic alkalosis, SLC12A3
DOU Weijuan,WANG Ruifeng,SHEN Yeqin,et al. Gitelman syndrome caused by new heterozygous mutation of SLC12A3 gene[J]. Chinese Journal of Nephrology, Dialysis & Transplantation, 2019, 28(2): 194-197.
0 / / Recommend
Add to citation manager EndNote|Ris|BibTeX
URL: http://www.njcndt.com/EN/10.3969/j.issn.1006-298X.2019.02.021
http://www.njcndt.com/EN/Y2019/V28/I2/194
Analysis of SLCl2A3 gene mutation in 10 patients with gitelman syndrome
