ACTIVATED PROTEIN C RESISTANCE IN NEONATES

最新描述和最常见的遗传性缺陷相关 血栓形成风险增加的原因是单点突变 因子V基因导致具有抗病毒活性的因子V 加入后部分凝血活酶时间(APTT)的失活 激活的蛋白C会筛选出缺陷。这将是一项分两个阶段的研究 评估一系列在大学医院出生的新生儿 用APCR功能试验检测凝血因子V突变 APCR检测和因子V基因突变的DNA检测。第一阶段将 重点检测100例APCR型和因子V基因突变的患病率 婴儿。第二阶段将决定因子V突变是否在 新生儿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.