Department of Coagulation and Hemostasis, Institute of Clinical Chemistry, University Hospital Schleswig-Holstein, Arnold-Heller-Str. 3, Building 17, Campus Kiel, D-24105 Kiel, Germany.
Semin Fetal Neonatal Med. 2011 Dec;16(6):345-8. doi: 10.1016/j.siny.2011.07.005. Epub 2011 Aug 10.
In neonates and infants with idiopathic venous thrombosis (VTE) and in pediatric populations in which thromboses were associated with medical diseases, inherited thrombophilia (IT) have been described as risk factors. Follow-up data for VTE recurrence in neonates suggest a recurrence rate between 3% in provoked and 21% in idiopathic VTE. Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE have shown significant associations between factor V G1691A, factor II G20210A, and deficiencies of protein C, protein S and antithrombin, even more pronounced when combined IT were involved. Independent from the age at first VTE onset, the pooled odds ratios (OR: single IT) for VTE ranged from 2.4 for the factor II G20210A mutation to 9.4 in neonates and infants with antithrombin deficiency. The pooled OR for persistent antiphospholipid antibodies/lupus anticoagulants was 4.9 for pediatric patients with venous VTE. The factor II G20210A mutation (OR: 2.1), and deficiencies of protein C (OR: 2.4), S (OR: 3.1) and antithrombin (OR: 3.0) also played a significant role at recurrence. Based on these data, screening and treatment algorithms must be discussed.
在特发性静脉血栓形成（VTE）的新生儿和婴儿中，以及在与医疗疾病相关的儿科人群中，遗传性血栓形成倾向（IT）已被描述为危险因素。VTE 复发的随访数据表明，诱发的 VTE 复发率为 3%，特发性 VTE 为 21%。除了基础医疗条件外，最近关于儿科 VTE 的系统评价显示，因子 V G1691A、因子 II G20210A 和蛋白 C、蛋白 S 和抗凝血酶缺乏之间存在显著关联，当联合 IT 时更为明显。与首次 VTE 发作的年龄无关，因子 II G20210A 突变的 VTE 汇总优势比（OR：单一 IT）为 2.4，新生儿和婴儿的抗凝血酶缺乏为 9.4。持续性抗磷脂抗体/狼疮抗凝剂的汇总 OR 为儿科静脉 VTE 患者的 4.9。因子 II G20210A 突变（OR：2.1）、蛋白 C（OR：2.4）、S（OR：3.1）和抗凝血酶（OR：3.0）缺乏在复发时也起重要作用。基于这些数据，必须讨论筛查和治疗算法。
