Gitelman Syndrome Presenting With Seizures and Atypical Features: A Case Series

吉特曼综合征伴癫痫发作和非典型特征:病例系列

阅读:1

Abstract

Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy caused by mutations in the SLC12A3 gene, leading to hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. We present a case series of two patients with GS, both presenting with seizures, a rare manifestation, alongside distinct atypical features. Case 1, a 35-year-old male, exhibited tetanic spasm, hypocalcemia, secondary hyperparathyroidism, and basal ganglia calcification. Case 2, a 55-year-old male with a history of coronary artery disease, presented with seizure, hypomagnesemia, and hyponatremia. These cases highlight the clinical heterogeneity of GS, emphasizing the importance of considering atypical presentations and their implications for diagnosis and management.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。