PDF(Pubmed)
Abstract：
Gitelman syndrome (GS) is an inherited somatic recessive disorder characterized by hypokalemic metabolic alkalosis, accompanied by hypocalciuria and hypermagnesuria. It usually presents in late childhood or young adults with muscle weakness, tetany, or convulsions. Limited information is available in the literature regarding the proper management of this syndrome during pregnancy, as well as its effects on both the mother and the child. We herein present the case of a 16-year-old primigravida who was admitted to the emergency department with chief complaints of abdominal pain, weakness, and vomiting for the past three days during the 12th week of gestation. Routine blood investigations revealed hypokalemia and hypomagnesemia, and electrocardiography (ECG) showed ST-segment depressions. Further evaluation was performed due to persistent hypokalemia, and metabolic alkalosis, hypocalciuria, and hyperaldosteronism were found. Hence, a clinical diagnosis of GS took place. The pregnancy progressed smoothly without complications; potassium levels remained consistently below normal, requiring supplementation three times during pregnancy. Pregnant women with GS should be reported due to the rarity of cases, aiming to establish a standardized approach for monitoring and management.
摘要：
Gitelman综合征(GS)是一种以低钾血症代谢性碱中毒为特征的遗传性躯体隐性疾病,伴有低钙尿症和高钙尿症。它通常出现在儿童晚期或肌肉无力的年轻人，Tetany,或抽搐。关于怀孕期间这种综合征的正确管理的文献中提供的信息有限，以及它对母亲和孩子的影响。我们在此介绍了一名16岁的primigravida，他因腹痛的主要投诉而被送往急诊科。弱点,在妊娠第12周的过去三天呕吐。血常规检查显示低钾血症和低镁血症，心电图（ECG）显示ST段压低。由于持续性低钾血症，进行了进一步评估，和代谢性碱中毒，低尿钙,发现醛固酮增多症。因此，GS的临床诊断发生了。妊娠进展顺利，无并发症；钾水平持续低于正常水平，怀孕期间需要补充三次。由于病例很少，应报告患有GS的孕妇，旨在建立标准化的监测和管理方法。
