Lämmle B, Demarmels Biasiutti F, Wuillemin W A, Stucki B, Furlan M
Hämatologisches Zentrallabor, Inselspital, Bern.
Praxis (Bern 1994). 1997 Jan 28;86(5):154-61.
Resistance against the anticoagulatory effect of activated protein C (APC resistance) is the most prevalent hereditary risk factor for venous thromboembolism known today. In this short review, an exemplary casuistic observation from our thrombophilia outpatient ward is presented. The discovery by Dahlbäck et al. in 1993 of hereditary APC resistance as a basis of familial thrombophilia and the molecular characterization of this defect as point mutation in the coagulation factor V gene (FV R506Q- or FV Leiden-mutation) by Bertina and coworkers are discussed. The clinical implications of this thrombophilia and relevant knowledge for daily practice are briefly summarized.
对活化蛋白C抗凝作用的抵抗(APC抵抗)是目前已知的静脉血栓栓塞最常见的遗传性危险因素。在这篇简短的综述中,展示了我们血栓形成门诊病房的一个典型病例观察。讨论了1993年达尔贝克等人发现遗传性APC抵抗是家族性血栓形成倾向的基础,以及贝蒂娜及其同事将该缺陷分子特征化为凝血因子V基因的点突变(FV R506Q或FV莱顿突变)。简要总结了这种血栓形成倾向的临床意义以及日常实践中的相关知识。