ISSN 1006-298X      CN 32-1425/R

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    

Gitelman syndrome caused by new heterozygous mutation of SLC12A3 gene

  

  • Online:2019-04-28 Published:2019-05-06

Abstract:

A 18yearold 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 patients weakness recovered gradually.

Key words: Gitelman syndrome, hypokaliemia, metabolic alkalosis, SLC12A3