儿童遗传性易栓症的研究进展

Research progress of the children inherited thrombophilia

近年来,越来越多的儿童遗传性易栓症案例被报道,而目前国内对于此病治疗和预防的认识还远远不够。儿童血栓形成是多因素的,包括多种遗传性血栓性疾病,而各种遗传性血栓性疾病的流行病学特点不同、血栓形成的风险也不同。静脉血栓形成是其典型表现。尽管其基因突变的类型不同,但血栓的治疗是相对统一的。早期识别易栓症和预防血栓症再发有助于提高危重患儿的生存率。

In recent years, more and more inherited thrombophilia cases of children were reported, and the current un- derstanding of the disease is not enough in China. The treatment and prevention of children inherited thrombophilia have not been unified. Thrombosis in children has various factors, including multifarious inherited disorders. Epidemi- ology of the disorders varies, as does the risk of thrombosis. Venous thromboembolism is the typical presentation. Treat- ment of thrombosis is relatively uniform, regardless of the underlying genetic risk factor. Early diagnosis and prevention of the children inherited thromhophilia are beneficial to the survival rate.