PDF(Pubmed)
Abstract：
A 36-year-old unmarried male chef was incidentally diagnosed with hypokalemia during an evaluation for an acute perianal abscess. Despite potassium supplementation, he developed progressive weakness in his lower limbs, culminating in an inability to stand. Investigations confirmed severe hypokalemia, metabolic alkalosis, hypomagnesemia, secondary hyperaldosteronism, and low urinary calcium excretion, with normotension. The patient\'s long-standing stunted growth and lean physique since childhood were noted. Biochemical assays further identified type 2 diabetes mellitus and metabolic syndrome. Genetic analysis revealed three heterozygous SLC12A3 mutations (M1: c.421G>A: p.G141R, M2: c.509T>A:p.L170Q, and M3: c.704C>A: p.T235K), compound heterozygo us and derived from both parents, with M1 and M3 reported here for the first time. Treatment with spironolactone and oral potassium chloride stabilized his potassium levels. Following the administration of SGLT2 inhibitors in patients receiving hypoglycemic therapy, we observed a mild decrease in serum sodium levels. This case highlights the criticality of vigilant metabolic surveillance in Gitelman syndrome and advises prudence with SGLT2 inhibitors in those with concurrent type 2 diabetes, given the risk of potentially aggravate sodium loss.
摘要：
一名36岁的未婚男厨师在评估急性肛周脓肿时被偶然诊断为低钾血症。尽管补充了钾，他的下肢出现了进行性的无力，最终导致无法站立。调查证实了严重的低钾血症,代谢性碱中毒，低镁血症,继发性醛固酮增多症,和低尿钙排泄，与正常。注意到患者从小就长期发育迟缓和苗条的体格。生化测定进一步鉴定了2型糖尿病和代谢综合征。遗传分析显示三个杂合SLC12A3突变（M1：c.421G>A：p.G141R，M2：c.509T>A：p。L170Q,和M3：c.705C>A：p.T235K），复合杂合我们，来自双亲，M1和M3首次在这里报道。螺内酯和口服氯化钾治疗稳定了他的钾水平。在接受低血糖治疗的患者中施用SGLT2抑制剂后，我们观察到血清钠水平轻度下降。该病例强调了Gitelman综合征中警惕代谢监测的重要性，并建议在并发2型糖尿病患者中谨慎使用SGLT2抑制剂。考虑到可能加剧钠流失的风险。
