一例伴有纯合子SLC12A3缺失且表现为癫痫的吉特曼综合征病例。
A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy.
作者信息
Wang Ying, Huang Wenting, Li Jia, Mao Shumin, Fang Wenqiang, Xu Huiqin
机构信息
Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
出版信息
Acta Epileptol. 2023 Nov 29;5(1):29. doi: 10.1186/s42494-023-00142-3.
BACKGROUND
Gitelman syndrome (GS) is a rare autosomal recessive hereditary renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.
CASE PRESENTATION
We report a rare case of GS with homozygous loss of SLC12A3 presenting with epilepsy. The patient was a 21-year-old female who sought medical attention for seizures. Her condition primarily manifested as epilepsy, diarrhea, and weakness of limbs. Through genetic analysis, we confirmed the diagnosis of this case and formulated a comprehensive approach for its management.
CONCLUSIONS
This case report extends the clinical symptoms of GS and provides a complete family of GS as a reference for subsequent studies.
背景
吉特林综合征（GS）是一种罕见的常染色体隐性遗传性肾小管疾病，其特征为低钾血症、代谢性碱中毒、低镁血症和低钙尿症。
病例报告
我们报告了一例罕见的GS病例，该病例存在SLC12A3纯合缺失并伴有癫痫发作。患者为一名21岁女性，因癫痫发作就医。她的病情主要表现为癫痫、腹泻和肢体无力。通过基因分析，我们确诊了该病例并制定了综合治疗方案。
结论
本病例报告扩展了GS的临床症状，并提供了一个完整的GS家系，为后续研究提供参考。
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