Gitelman综合征合并抑郁症1例  

A case report of Gitelman syndrome combined with depression

作　　者：葛丹[1] 胡雪剑[1] GE Dan;HU Xuejian(Department of Endocrinology and Metabolism,Lanzhou University Second Hospital,Gansu,Lanzhou 730000,China)

机构地区：[1]兰州大学第二医院内分泌代谢科,甘肃兰州730000

出　　处：《中国医药科学》2024年第16期188-190,共3页China Medicine And Pharmacy

基　　金：甘肃省自然科学基金(21JR11RA125)。

摘　　要：Gitelman综合征(GS)是一种由SLC12A3基因突变引起罕见的隐性遗传性疾病,是肾单位远曲小管重吸收氯化钠障碍造成的原发性失盐性肾病。其临床表现呈多样性,实验室检查主要表现为低钾血症、代谢性碱中毒、低镁血症、低尿钙。现报道1例兰州大学第二医院收治的GS合并抑郁症患者,分析讨论该病例的临床表现、诊断、治疗、合并症管理。镁缺乏可能与抑郁症有关,该病例同步补钾及补镁后抑郁症状改善。以上研究为遗传性肾小管疾病诊治的临床工作提供经验。Gitelman syndrome(GS)is a rare recessive hereditary disease caused by mutations in the SLC12A3 gene.It is a primary salt-losing nephropathy caused by impaired reabsorption of sodium chloride in the distal tubules of the nephron.Its clinical manifestations are diverse,and laboratory tests mainly show hypokalemia,metabolic alkalosis,hypomagnesemia,and hypocalcemia.This paper reports a case of GS patient complicated with depression admitted to the Lanzhou University Second Hospital,and analyzes and discusses the clinical manifestations,diagnosis,treatment,and management of comorbidities in this case.Magnesium deficiency may be associated with depression,and the depressive symptoms improved after synchronized potassium and magnesium supplementation in this case.The above study provides experience for clinical work in the diagnosis and management of hereditary renal tubular diseases.

关 键 词：GITELMAN综合征 低钾血症 低镁血症 抑郁症 基因检测 

分 类 号：R586.9[医药卫生—内分泌]