Gitelman综合征（Gitelman syndrome, GS）是较少见的遗传性肾小管病，患者临床表现通常较轻，多为乏力、嗜盐、心悸等非特异性症状。GS继发横纹肌溶解症（rhabdomyolysis, RM）十分罕见，目前国内外文献报道仅10余例，且多见于儿童。本文报道了1例成人GS继发RM患者的详细诊治过程，并结合文献分析该疾病的诊治要点。该例患者为青年男性，长期存在不明原因的低钾血症，入院前因劳累出汗后，出现乏力加重伴肌肉酸痛。实验室检查提示患者存在低血钾、低血镁、代谢性碱中毒、低尿钙，肾素-血管紧张素-醛固酮系统轻度激活，伴肌酸激酶升高超过正常上限5倍。进一步行全外显子基因检测，结果提示该患者存在SLC12A3基因复合杂合突变，最终确诊该患者为GS继发RM。予口服安体舒通、氯化钾、钙镁片等补钾、补镁及水化治疗后，患者的临床症状明显好转。随访1年，患者的电解质水平基本正常，肾功能稳定。复习相关文献，发现GS患者继发RM临床罕见，且主要发生于严重低钾、低镁的儿童，常有剧烈运动、腹泻、服用药物等诱因，治疗不及时可出现肾功能衰竭等严重并发症。本病例提示成人GS患在一定诱因下亦可继发RM等严重症状,临床医师应掌握GS的诊治要点以减少漏诊、误诊。

Gitelman syndrome (GS) is a hereditary renal tubular disease, with usually mild clinical manifestations and non-specific symptoms such as fatigue, salt craving, and palpitations. GS complicated with Rhabdomyolysis (RM) is very rare in clinical practice. To date, less than 20 cases were reported in the literature and most of them were children. Thus, we reported the detailed diagnosis and treatment process of an adult GS patient complicated with RM, and analyzed the main points of diagnosis and treatment in combination with literature. A young male patient with long-term hypokalemia of unknown etiology was hospitalized due to severe fatigue and muscle soreness after sweating. Laboratory examinations showed he had hypokalemia, hypomagnesium, metabolic alkalosis, low urinary calcium excretion, mild activation of the renin-angiotensin-aldosterone system (RAAS) and significantly increased serum creatine kinase. Compound heterozygous mutations were then detected in SLC12A3 gene by exome sequencing. He was finally diagnosed as GS complicated with RM. After taking oral spironolactone, potassium chloride, calcium magnesium tablets and hydration treatments, the patient's clinical symptoms improved significantly. His electrolyte level and renal function were stable during 1 year of follow-up. Literature review indicated that RM was a rare complication in GS patients that usually occurred in children with severe hypokalemia and hypomagnesia. It is often induced by intense exercise, diarrhea or medications and might cause renal acute failure without early diagnosis and proper treatments. This case suggests that adult patients with GS may also have serious symptoms such as RM under certain inducements. Clinicians should master the key points for the diagnosis and treatment of GS to reduce misdiagnosis.