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

作　　者：丁娅琪 陈怡 雷晓阳 孟开武 蔡刚 李军 田田 贺电 DING Yaqi;CHEN Yi;LEI Xiaoyang(Neurology Department,The Affiliated Hospital of Guizhou Medical University,Guizhou 550004,China)

机构地区：[1]贵州医科大学附属医院神经内科,贵州贵阳550004

出　　处：《中风与神经疾病杂志》2025年第3期255-257,共3页Journal of Apoplexy and Nervous Diseases

基　　金：科技创新2030−“脑科学与类脑研究”重大项目(2021ZD0201801);贵州省自然科学基金(黔科合ZK2021-416)。

摘　　要：颅内静脉窦血栓形成(CVST)是一种由多种病因导致的颅内静脉系统内形成血栓,进而导致颅内血液回流受阻或者脑脊液循环障碍的少见的脑血管疾病,临床症状多样,可有颅内压增高症和局灶症状。SERPINC1基因编码的抗凝血酶Ⅲ(ATⅢ)是凝血酶及凝血因子Ⅻα、Ⅺα、Ⅸα、Ⅹα等含丝氨酸的蛋白酶的抑制剂,其基因突变导致的抗凝血酶缺乏是血栓形成的危险因素,现将贵阳贵州医科大学附属医院收治的1例可能由ERPINC1基因内含子及外显子共同变异导致的ATⅢ缺乏所导的CVST病例报道如下。Cerebral venous sinus thrombosis(CVST)is a rare cerebrovascular disease characterized by the formation 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 intracranial pressure and focal neurological deficits.AntithrombinⅢ(ATⅢ),encoded by the SERPINC1 gene,acts as a serine protease inhibitor for thrombin and coagulation factorsⅫα,Ⅺα,Ⅸα,andⅩα,and antithrombin deficiency caused by SERPINC1 gene mutations is a risk factor for thrombosis.This article reports a case of CVST due to ATⅢdeficiency 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 

分 类 号：R743[医药卫生—神经病学与精神病学]