Clinical characteristics and SLC12A3 gene mutation profile of Gitelman syndrome: One case report

Abstract

Objective To describe the clinical characteristics of a patient with Gitelman syndrome, and to identify the associated SLC12A3 gene mutations. Methods A suspected case of teenager-onset Gitelman syndrome was observed in our hospital. It was further confirmed by clinical manifestations and auxiliary examination. In addition, direct sequencing for the exons of SLC12A3 gene and CLCNKB gene region was conducted to identify the probable disease-associated mutations. Results The case showed characteristics of hypokalemia, hypomagnesemia, and low level of urinary calcium and onset by age of 18. By excluding the possibilities of long-term use of thiazide diuretics, laxatives, chronic vomiting and diarrhea, he was finally diagnosed as a case of Gitelman syndrome. Furthermore, by Sanger direct sequencing, 2 coding variations were identified in SLC12A3 gene region, including T304M and L488P. L488P was a new heterozygous mutation. Conclusion Detection of SLC12A3 gene mutation could facilitate the diagnosis of Gitelman syndrome and improve prognosis. (Chin J Endocrinol Metab, 2015, 31: 438-442) Key words: Gitelman syndrome; SLC12A3; Genetic diagnosis