PAI-1基因4G/5G杂合多态性相关脑静脉血栓形成1例报道

doi:10.3969/j.issn.1673-5765.2026.04.012

摘要/Abstract

摘要： 脑静脉血栓形成（cerebral venous thrombosis，CVT）是一种特殊类型的脑血管疾病，其发病机制复杂。本文报道了1例以急性缺血性卒中症状起病的CVT患者，入院后于治疗时间窗内接受尿激酶静脉溶栓，经抗血小板等治疗后症状仍复发，并伴局灶性癫痫发作。头颅MRI+MRV+SWI提示脑静脉窦血栓形成合并出血性皮质静脉梗死。患者有静脉血栓家族史。实验室检查提示血浆D-二聚体、C反应蛋白及红细胞沉降率升高。最终经易栓症基因检测提示为纤溶酶原激活物抑制物-1（plasminogen activator inhibitor-1，PAI-1）基因4G/5G杂合多态性相关CVT。患者接受抗凝治疗后症状明显好转，神经功能恢复良好，随访1周及2个月时症状未再复发。

关键词: 纤溶酶原激活物抑制物-1; PAI-1基因4G/5G多态性; 脑静脉血栓形成; 出血性皮质静脉梗死; 抗凝治疗

Abstract: Cerebral venous thrombosis (CVT) is a distinct type of cerebrovascular disease with a complex pathogenesis. This paper reports a case of CVT initially presenting with symptoms of acute ischemic stroke. The patient received intravenous thrombolysis with urokinase within the therapeutic time window after admission. The symptoms subsequently recurred despite antiplatelet and other treatments and were accompanied by focal epileptic seizures. Cranial MRI+MRV+SWI revealed cerebral venous sinus thrombosis complicated by hemorrhagic cortical venous infarction.The patient had a family history of venous thrombosis. Laboratory investigations showed elevated plasma D-dimer, C-reactive protein levels, and erythrocyte sedimentation rate. Subsequent thrombophilia genetic testing indicated a heterozygous 4G/5G polymorphism of the plasminogen activator inhibitor-1 (PAI-1) gene associated with CVT. The patient showed marked symptomatic improvement after anticoagulant therapy, with good neurological recovery and no recurrence during follow-up at 1 week and 2 months.

Key words: Plasminogen activator inhibitor-1; PAI-1gene 4G/5G polymorphism; Cerebral venous thrombosis; Hemorrhagic cortical venous infarction; Anticoagulation therapy

中图分类号:

王善正, 谷志英, 陈翠云, 厉三明. PAI-1基因4G/5G杂合多态性相关脑静脉血栓形成1例报道[J]. 中国卒中杂志, 2026, 21(4): 493-501.

WANG Shanzheng, GU Zhiying, CHEN Cuiyun, LI Sanming. A Case Report of Cerebral Venous Thrombosis Associated with a Heterozygous PAI-1 Gene 4G/5G Polymorphism[J]. Chinese Journal of Stroke, 2026, 21(4): 493-501.

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链接本文: https://www.chinastroke.org.cn/CN/10.3969/j.issn.1673-5765.2026.04.012

https://www.chinastroke.org.cn/CN/Y2026/V21/I4/493

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