中风与神经疾病杂志2025，Vol.42Issue(3)：255-257,3.DOI:10.19845/j.cnki.zfysjjbzz.2025.0051
SERPINC1基因突变致颅内静脉窦血栓形成1例报告
Cerebral venous sinus thrombosis caused by SERPINC1 gene mutation:A case report
摘要
Abstract
Cerebral venous sinus thrombosis(CVST)is a rare cerebrovascular disease characterized by the forma-tion of blood clots in the intracranial venous system due to various causes,resulting in obstruction of intracranial blood flow or cerebrospinal fluid circulation disorder.This disease often has diverse clinical symptoms,including increased intracra-nial pressure and focal neurological deficits.Antithrombin Ⅲ(AT Ⅲ),encoded by the SERPINC1 gene,acts as a serine protease inhibitor for thrombin and coagulation factors Ⅻα,Ⅺα,Ⅸα,and Ⅹα,and antithrombin deficiency caused by SERPINC1 gene mutations is a risk factor for thrombosis.This article reports a case of CVST due to ATⅢ deficiency caused by common mutations in both the intron and exon regions of the SERPINC1 gene in our hospital.关键词
颅内静脉窦血栓形成/SERPINC1/抗凝血酶缺乏Key words
Cerebral venous sinus thrombosis/SERPINC1/Antithrombin deficiency分类
医药卫生引用本文复制引用
丁娅琪,陈怡,雷晓阳,孟开武,蔡刚,李军,田田,贺电..SERPINC1基因突变致颅内静脉窦血栓形成1例报告[J].中风与神经疾病杂志,2025,42(3):255-257,3.基金项目
科技创新2030-"脑科学与类脑研究"重大项目(2021ZD0201801) （2021ZD0201801）
贵州省自然科学基金(黔科合ZK2021-416) （黔科合ZK2021-416）
