儿童血友病的前沿性诊断

New insights in diagnosis of children hemophilia

血友病A(hemophilia A)和血友病B(hemophilia B)是X连锁隐性遗传性出血性疾病,遗传特点是男性发病、女性携带。血友病的基因诊断采用方法有DNA常规测序、聚合酶链反应(PCR)法、酶谱分析法、Southern印迹法。目前,临床上开展了FⅧ22内含子倒位分析,可作为重型血友病的筛选试验。产前诊断有助于减少血友病患儿出生率。而凝血因子抑制物的产生是目前造成替代治疗无效的根本原因。危险因素包括:有抑制物家族史、存在高风险基因突变、首次出血发作时强化治疗。不同血友病患者凝血因子的药代动力学(pharmacokinetic,PK)存在明显差异。除了考虑患者出血事件以外,PK参数应该作为预防治疗个体化调整的重要参考指标。相关参数包括半衰期、清除率、体内回收率(IVR)、曲线下面积(AUC)、峰浓度、谷浓度等。不同年龄、体重、血型及von Willebrand因子(v WF)水平等都可能为其影响因素。上述进展有助于针对血友病患者进行个体化治疗策略调整。

As a congenital genetic disease, the diagnosis and treatment of hemophilia has made a rapid progress, and new treatment methods and new drugs are emerging in recent years. The interpretation mainly introduces the current progress in several aspects, such as laboratory diagnosis, individual prophylaxis, prevention and control of coagulation factors inhibitor and comprehensive hemophilia care, to help understand well about Expert Guidance of Pediatric Hemophilia in China （2017）.