Komitopoulou A, Platokouki H, Kapsimali Z, Pergantou H, Adamtziki E, Aronis S
Hemostasis and Hemophilia Unit, Aghia Sophia Children's Hospital, Athens, Greece.
Cerebrovasc Dis. 2006;22(1):13-20. doi: 10.1159/000092332. Epub 2006 Mar 27.
The pathogenesis of thrombosis in childhood seems to be multifactorial implicating genetic and environmental factors.
To compare the distributions of mutations/polymorphisms in genes affecting hemostasis (factor V Leiden - FVL, FV H1298R-FVR2, FII 20210A, b-Fib 455G>A, FXIII V34L, PAI-1 4G, HPA-1b) or homocysteine metabolism (MTHFR C677T, MTHFR A1298C) among 90 children with arterial ischemic stroke (AIS) and 103 controls, and to associate the carriage of these mutations/polymorphisms with their corresponding proteins in children with AIS.
AIS was more frequent in boys (p < 0.01). No studied mutation/polymorphism was found to be a risk factor for AIS, except for FVL [odds ratio 4.2 (95% CI 1.5-12.1)], the presence of which was even higher in 31 children with congenital AIS [odds ratio 6.82 (95% CI 2.0-22.8)]. FVL carriers had an odds ratio of 5.76 (95% CI 1.6-6.4) when FVR2 was absent. In thrombosed children, activated protein C resistance, prothrombin and fibrinogen levels were higher in the presence of FVL, FII20210A or b-Fib 455G-->A, respectively. Double heterozygotes in both MTHFR C677T and A1298T or homozygotes in one had significantly elevated homocysteine levels.
Except for FVL, no definite conclusion could be reached regarding the involvement of the studied mutations/polymorphisms in childhood AIS.
儿童期血栓形成的发病机制似乎是多因素的，涉及遗传和环境因素。
比较90例动脉缺血性卒中（AIS）患儿和103例对照者中影响止血的基因（因子V莱顿突变 - FVL、FV H1298R - FVR2、FII 20210A、b - 纤维蛋白原455G>A、FXIII V34L、PAI - 1 4G、HPA - 1b）或同型半胱氨酸代谢基因（MTHFR C677T、MTHFR A1298C）的突变/多态性分布，并将这些突变/多态性的携带情况与AIS患儿相应蛋白相关联。
AIS在男孩中更常见（p < 0.01）。除FVL外，未发现所研究的突变/多态性是AIS的危险因素[比值比4.2（95%可信区间1.5 - 12.1）]，在31例先天性AIS患儿中其出现率甚至更高[比值比6.82（95%可信区间2.0 - 22.8）]。当不存在FVR2时，FVL携带者的比值比为5.76（95%可信区间1.6 - 6.4）。在发生血栓的儿童中，存在FVL、FII20210A或b - 纤维蛋白原455G→A时，活化蛋白C抵抗、凝血酶原和纤维蛋白原水平分别升高。MTHFR C677T和A1298T的双杂合子或其中一个的纯合子同型半胱氨酸水平显著升高。
除FVL外，关于所研究的突变/多态性与儿童期AIS的关系无法得出明确结论。
