Gitelman综合征伴2型糖尿病一例报道

Gitelman syndrome with type 2 diabetes mellitus: a case report

59岁女性患者因“反复低血钾24年,多尿、口干、多饮2个月”入院。实验室检查示低钾血症性碱中毒、低镁血症、继发性醛固酮增多症、低尿钙以及血糖偏高。第一代测序检测到SLC12A3基因有2个杂合突变,即外显子4区c.506-1G>A和c.536T>A,诊断为Gitelman综合征伴T2DM。经降糖、补钾、补镁联合醛固酮拮抗剂治疗后病情稳定出院。

A 59 years old female patient was admitted to hospital for“repeated hypokalemia for 24years,polyuria,thirst and excessive drinking for two months”.Laboratory examination showed hypokalemic alkalosis,hypomagnesemia,secondary aldosteronism,low urinary calcium and high blood glucose.Sanger sequencing detected two heterozygous mutations in SLC12A3 gene:c.506-1G> A and c.536T>A in exon 4.The patient was diagnosed with Gitelman syndrome and type 2 diabetes mellitus.After treatment with anti-hyperglycemia,potassium and magnesium supplementation combined with aldosterone antagonists,the patient was discharged in a stable condition.