Significance of factor V Leiden mutation in Budd- Chiari syndrome and portal vein thrombosis
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摘要: 布加综合征与门静脉血栓是2种罕见的肝脏血管病,可伴发肝功能衰竭及门静脉高压症等严重并发症。研究证据表明因子V Leiden(FVL)突变是西方布加综合征与门静脉血栓患者的重要危险因素,但在中国布加综合征患者中比较罕见。着重回顾FVL突变在布加综合征与门静脉血栓形成中的意义,提出尚须前瞻性研究进一步评估FVL突变在中国门静脉血栓患者中的患病率,以判断FVL突变筛查的必要性。
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关键词:
- Budd-Chiari综合征 /
- 静脉血栓栓塞 /
- 因子V /
- 突变,误义
Abstract: Budd- Chiari syndrome and portal vein thrombosis are two rare vascular disorders of the liver and may be complicated by severe diseases like liver failure and portal hypertension. Studies have shown that factor V Leiden ( FVL) mutation is an important risk factor for both Budd- Chiari syndrome and portal vein thrombosis in Western countries. However, FVL mutation is rarely observed in Chinese patients with Budd- Chiari syndrome. The significance of FVL mutation in the pathogenesis of Budd- Chiari syndrome and portal vein thrombosis is reviewed. It is suggested that prospective studies regarding the prevalence of FVL mutation in Chinese patients with portal vein thrombosis are warranted to judge the necessity of screening for FVL mutation.-
Key words:
- Budd-Chiari syndrome /
- venous thromboembolism /
- factor V /
- mutation, missense
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