Kopyta Ilona, Sarecka-Hujar Beata, Sordyl Joanna, Sordyl Ryszard
Department of Neuropediatrics, Medical University of Silesia, ul. Medykow 16, 40-752, Katowice, Poland,
Mol Biol Rep. 2014 Jul;41(7):4241-51. doi: 10.1007/s11033-014-3295-2. Epub 2014 Mar 1.
The incidence of arterial ischemic stroke (AIS) in childhood (about 2-13 per 100,000 children a year) is much lower than the incidence in the adult population. Still, adverse outcomes of acute brain ischemia in childhood include death (10% of AIS children), neurological sequel, epileptic seizures (over 50%) and recurrence (over 20%). The knowledge of childhood stroke etiopathogenesis is still insufficient and the diagnostic and therapeutic procedures--controversial. Risk factors for childhood stroke differ from those observed in adults due to differing exposure to external risk factors. The most frequently reported risk factors for pediatric ischemic stroke are cerebral arteriopathies and vascular malformations, cardiac diseases, infections, traumas and metabolic diseases. Because of its multifactorial etiology pediatric AIS probably has a multigenic inheritance pattern. The genetic susceptibility to AIS may be determined by specific polymorphic variants encoding markers of hemostasis regulation and they are some of the most important targets in searching for genetic determinants in pediatric AIS. The authors have reviewed the recent literature on risk factors of childhood ischemic stroke with the focus on genetic factors like polymorphisms of genes encoding coagulation factors II, V, VII and XIII, MTHFR, fibrinogen beta, and compared them with the results performed in adult patients.
儿童动脉缺血性卒中(AIS)的发病率(每年每10万名儿童中约2 - 13例)远低于成人。然而,儿童急性脑缺血的不良后果包括死亡(AIS儿童中的10%)、神经后遗症、癫痫发作(超过50%)和复发(超过20%)。儿童卒中的病因发病机制知识仍然不足,诊断和治疗程序也存在争议。由于儿童接触外部风险因素的情况不同,儿童卒中的风险因素与成人中观察到的有所不同。儿童缺血性卒中最常报告的风险因素是脑动脉病变和血管畸形、心脏病、感染、创伤和代谢疾病。由于其多因素病因,儿童AIS可能具有多基因遗传模式。AIS的遗传易感性可能由编码止血调节标志物的特定多态性变体决定,它们是寻找儿童AIS遗传决定因素的一些最重要目标。作者回顾了近期关于儿童缺血性卒中风险因素的文献,重点关注了诸如凝血因子II、V、VII和XIII、亚甲基四氢叶酸还原酶(MTHFR)、纤维蛋白原β等基因多态性等遗传因素,并将其与成年患者的研究结果进行了比较。