遗传性高凝状态与股骨头缺血性坏死相关性研究进展

PROGRESS IN RELATIONSHIP BETWEEN HERITABLE HYPERCOAGULABLE STATE AND AVASCULAR NECROSIS OF FEMORAL HEAD

目的综述遗传性高凝状态(heritable hypercoagulable state,HHCS)与股骨头缺血性坏死(avascularnecrosis of femoral head,ANFH)相关性的研究进展。方法广泛查阅近年有关HHCS相关基因突变与ANFH关系的文献,并总结分析。结果研究表明,凝血因子Ⅴ基因G1691A、凝血酶原基因G20210A、5,10-亚甲基四氢叶酸还原酶基因C677T、纤溶酶原激活物抑制物1基因4G/5G以及组织因子途径抑制剂基因等多种HHCS相关基因突变与ANFH存在一定关系。结论 HHCS可能是ANFH的遗传学易感因素,HHCS在我国ANFH发生发展中所发挥的作用有待进一步研究明确。

Objective To review the relationship between heritable hypercoagulable state（HHCS） and avascular necrosis of femoral head（ANFH）.Methods The latest original articles about the relationship between HHCS and ANFH were extensively reviewed.Results Several genetic mutations which could cause HHCS,such as thrombophilic factor V G1691A gene,thrombophilic factor II G20210A gene,5,10-methylenetetrahydrofolate reductase C677T gene,plasminogen activator inhibitor 1 4G/5G,and tissue factor pathway inhibitor gene,may be genetic risks of ANFH.Conclusion HHCS may be a genetic cause of ANFH.Further studies are needed to con rm the relationship between HHCS and Chinese ANFH.