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目的总结遗传性易栓症的研究进展。方法复习近年来有关遗传性易栓症的文献报道并进行分析。结果易栓症的遗传性危险因素存在着种族差异。白种人以活化蛋白C抵抗、凝血因子VLeiden突变、亚甲基四氢叶酸还原酶C677T突变及凝血酶原G20120A突变为主要遗传易感因素;中国人群则以蛋白C系统异常及高同型半胱氨酸血症为主。多个遗传性危险因素的联合存在增加了首发和复发静脉血栓的风险。结论进一步探索遗传性危险因素与易栓症的关系,对于预测及预防静脉血栓栓塞症的发生,降低其发病率有着十分重要的意义。
Objective To summarize the research progress of hereditary thrombosis. Methods Review of recent literature on genetic thrombosis reported and analyzed. Results There were racial differences in genetic risk factors for embolism. Caucasians with activation of protein C resistance, coagulation factor VLeiden mutation, methylenetetrahydrofolate reductase C677T mutation and prothrombin G20120A mutation is the main genetic predisposition; Chinese people are based on protein C system abnormalities and high homocysteine Serum mainly. The combined presence of multiple hereditary risk factors increases the risk of first-episode and recurrent venous thrombosis. Conclusion Further exploration of the relationship between hereditary risk factors and thrombophilia is very important for predicting and preventing the occurrence of venous thromboembolism and reducing its incidence.