关键词: Gitelman综合征； 蛋白尿； SLC 12 A3基因

Abstract: Objective To explore the diagnosis and treatment of Gitelman syndrome caused by SLC 12 A3 gene mutation. Methods? The clinical data of Gitelman syndrome concurrent with primary nephrotic syndrome in a child were retrospectively analyzed, and the related literature was systematically reviewed. Results A 6 -year-old male child presented with recurrent nephrotic syndrome, persistent hypokalemia, increased urinary sodium and potassium excretion, hypomagnesemia, metabolic alkalosis, hypocalciuria and activated renin angiotensin-aldosterone system. There was no abnormal blood pressure, no history of special medication and no family history. Whole exome sequencing revealed that the child had a homozygous missense mutation of c.179C>T (p.T60M) in exon 1 of SLC 12 A3 gene on chromosome 16, and both of his parents were carriers. It was determined to be a pathogenic mutation by ACMG score. The child was diagnosed of nephrotic syndrome concurrent with Gitelman syndrome. By reviewing the literature, Gitelman syndrome may be associated with proteinuria. Conclusion? Importance should be recognized in the evaluation and follow-up of proteinuria in Gitelman syndrome and protection of the renal function.

Key words: Gitelman syndrome;? proteinuria;? SLC 12 A3 gene