ACTIVATED PROTEIN C RESISTANCE IN NEONATES

最近描述的和最常见的遗传性缺陷相关 血栓形成的风险增加是一个单一的点突变的因素， 导致抗失活的活化因子V的V基因 通过添加活化蛋白后的部分凝血活酶时间（APTT） C屏幕的缺陷。 这将是一项2期研究，旨在评估 一系列在大学医院出生的新生儿的因子V 使用APCR的功能测定法、APCR的改良测定法 以及因子V突变的DNA测试 第一阶段将侧重于 确定100名婴儿中APCR和因子V突变的患病率。 第二阶段将确定新生儿中的因子V突变是否 增加了导管相关血栓形成的风险。

The most recently described and most common inherited defect associated with increased risk of thrombosis is a single point mutation in the factor V gene leading to an activated factor V that is resistant to inactivation by partial thromboplastin time (APTT) after addition of activated protein C screens for the defect. This will be a 2-phase study to evaluate a series of newborn infants born at University Hospital for the factor V mutation using the functional assay for APCR, the modified assay for APCR and the DNA test for the factor V mutation. Phase I will focus on determining prevalence of APCR and factor V mutation in 100 infants. Phase II will determine whether the factor V mutation in neonates increased their risk for catheter-related thrombosis.