Suppiej Agnese, Franzoi Malida, Gentilomo Chiara, Battistella Pier Antonio, Drigo Paola, Gavasso Sabrina, Laverda Anna Maria, Simioni Paolo
Children's Hospital, University of Padua, Padua, Italy.
Eur J Haematol. 2008 Jan;80(1):71-5. doi: 10.1111/j.1600-0609.2007.00971.x. Epub 2007 Nov 19.
The aim of this study was to assess the prevalence of inherited thrombophilia in 'peri-neonatal arterial ischemic stroke' (AIS), and its possible correlation with type of stroke and long-term neurological outcome. A cohort of twenty-four infants affected by AIS were analysed for risk factors, clinical and neuroradiological features, coagulation and thrombophilia profile and outcome. Two subgroups were considered, based on clinical presentation: infants symptomatic in the neonatal period, acute AIS (aAIS) and those with a delayed presentation (presumed peri-neonatal onset, pAIS). The mean follow-up on patients was 3 yr and 1 month (range 1-15 yr). Inherited thrombophilia, consisting of factor V Leiden and prothrombin G20210A mutations, protein C and/or protein S deficiencies, was detected in 28.6%. A significantly higher prevalence of inherited thrombophilia was observed in infants with pAIS compared with aAIS (Fisher's exact test, P = 0.011). Infants with pAIS had a significantly worse neurological outcome with respect to aAIS (Fisher's exact test, P = 0.014). Inherited thrombophilia was significantly higher in patients with a poor neurological outcome (Fisher's exact test P = 0.002). Although the clinical presentation (aAIS vs. pAIS) was associated with future neurological disabilities, it is the thrombophilia but not the clinical presentation, which remains the only significant prognostic factor in the logistic regression analysis. Although preliminary, these data suggest an association of unfavourable neurological outcome and inherited prothrombotic defects in neonatal AIS. The higher prevalence of inherited thrombophilia identified in pAIS and the worse neurological outcome encourage further investigations in population-based studies.
本研究旨在评估“围新生儿期动脉缺血性卒中”（AIS）中遗传性易栓症的患病率，及其与卒中类型和长期神经学预后的可能关联。对24例患AIS的婴儿队列进行了危险因素、临床和神经放射学特征、凝血和易栓症概况及预后分析。根据临床表现将其分为两个亚组：新生儿期有症状的婴儿，即急性AIS（aAIS）和表现延迟的婴儿（推测为围新生儿期起病，pAIS）。患者的平均随访时间为3年1个月（范围1 - 15年）。在28.6%的患者中检测到遗传性易栓症，包括因子V莱顿突变和凝血酶原G20210A突变、蛋白C和/或蛋白S缺乏。与aAIS相比，pAIS婴儿中遗传性易栓症的患病率显著更高（Fisher精确检验，P = 0.011）。pAIS婴儿的神经学预后相对于aAIS显著更差（Fisher精确检验，P = 0.014）。神经学预后差的患者中遗传性易栓症显著更高（Fisher精确检验P = 0.002）。尽管临床表现（aAIS与pAIS）与未来的神经残疾相关，但在逻辑回归分析中，易栓症而非临床表现仍然是唯一显著的预后因素。尽管这些数据是初步的，但提示新生儿AIS中不良神经学预后与遗传性血栓前缺陷有关。pAIS中发现的遗传性易栓症较高患病率以及较差的神经学预后促使在基于人群的研究中进一步开展调查。
