青年女性,乏力,低血钾,高血糖

Young Female,Fatigue,Hypokalemia,Hyperglycemia

本文报道1例合并乏力、低血钾、高血糖的青年女性患者。其既往合并糖尿病,因乏力、发现血钾低5年而就诊,辅助检查示低血钾、低血镁、代谢性碱中毒、低尿钙,SLC12A3致病性突变,确诊为Gitelman综合征。予以氯化钾、镁剂治疗后,患者乏力得到改善,血钾、血镁基本正常,口服降糖药物后血糖控制达标。本文梳理该患者的诊疗历程,并结合文献复习,以期为临床诊疗提供参考。

We report a case of a young female patient with fatigue,hypokalemia,and hyperglycemia.She had past⁃history of diabetes mellitus,and was admitted to hospital with a history of fatigue and hypokalemia for 5 years.The patient’s examination indicated hypokalemia,hypomagnesemia,metabolic alkalosis,hypocalci⁃uria,and SLC12A3 gene pathogenic mutation.The diagnosis was Gitelman syndrome.Potassium and magnesium supplements were given to improve the patient’s fatigue.Serum potassium and magnesium were normal.The blood glucose reached standard after treatment with oral hypoglycemic drugs.This article incorporates literature review to sort out the diagnosis and treatment of Gitelman syndrome,in order to provide feasible reference for clinicians.