Abstract:

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.

Key words: Gitelman syndrome, Rhabdomyolysis, Genetic diagnosis, Literature review