Abstract: Gitelman syndrome (GS),  also known as familial hypokalemic  hypomagnesemia,  is an autosomal recessive inherited and saltlosing renal tubular disease characterized by hypokalemic and  hypochloremic alkalosis,  hypomagnesemia,  hypocalciuria  and high renin activity. And GS patients  may have  normal or low blood pressure.Most patients have good prognosis after “food supplement+drug” replacement therapy. Early detection and corresponding treatment can significantly improve the life quality of patients. Together with other related literature,  this paper reports  the clinical data,  diagnosis and treatment of a patient with Gitelman syndrome and short stature admitted to Xi 'an Children's Hospital.

Key words: Gitelman syndrome, hypokalemia, short stature, SLC12A3 gene