Objective To analyze the clinical characteristics of refractory Gitelman syndrome and summarize the experience in diagnosis and treatment. Methods A cases of Gitelman syndrome was studied. The relevant examinations, kidney pathology and SLC12A3 gene analysis were completed. Results The patient got the disease when he was young. The clinical manifestations included recurrent heart palpitations, seizures, limb convulsions and fatigue. Laboratory examinations revealed low potassium, low magnesium and metabolic alkalosis. Renal pathology showed juxtaglomerular hyperplasia. Gene analysis revealed compound heterozygous mutation of SLC12A3 gene. After supplement of potassium and magnesium, the condition was alleviated but easy to relapse. Conclusions Hypokalemia of the patients was difficult to correct and easy to relapse. The patient had obvious clinical symptoms, and was worthy of long-term attention.