Schobess R, Junker R, Auberger K, Münchow N, Burdach S, Nowak-Göttl U
Paediatric Haematology and Oncology, University Hospital Halle/Saale.
Eur J Pediatr. 1999 Dec;158 Suppl 3:S105-8. doi: 10.1007/pl00014335.
Risk factors for venous thrombosis in adults are the prothrombin (PT) G20210A, the factor (F) V G1691A mutations and hereditary deficiencies of protein C, protein S and antithrombin. However, data are limited on the relevance of these risk factors for thrombosis in children and adolescents. We therefore investigated 119 patients aged 0-18 with spontaneous venous thrombosis and controls (n = 100) for the presence of the factor V G1691A mutation and the prothrombin G20210A variant with respect to thrombotic onset and thrombosis location. The following frequencies (patients vs. controls), odds ratios (OR), 95%-confidence intervals (CI) and p-values were found: FV G1691A, 19.3% vs. 5%, OR/CI 4.55/1.66-12.5, p = 0.0038 and prothrombin G20210A, 8.4% vs. 3%, OR/CI 2.96/0.8-11, p = 0.17. A combination of the FV G1691A mutation with the PT G20210A variant was found in 3 children (2.5% of cases) but only once in the controls. With a median (range) age of 2 years (0-17), carriers of the FV mutation were significantly younger compared with patients carrying the PT variant (16 years: 0-18, p < 0.001). Vascular accidents in carriers of the FV mutation occurred in deep veins of the leg (n = 11), cerebral veins (n = 4), renal veins (n = 3) and portal veins (n = 2). Patients with the PT mutation showed spontaneous thrombosis in the majority of cases in the deep veins of the leg (n = 5) and in the central nervous system (n = 2). Combined defects were found in a neonate with renal venous thrombosis and in two adolescents with deep vein thrombosis.
Data presented here suggest that the heterozygous FV mutation is the most commonly found prothrombotic risk factor responsible for spontaneous thrombosis during infancy and early childhood. In contrast, the PT G20210A variant is likely to be more important during puberty and adolescence.
成人静脉血栓形成的危险因素包括凝血酶原（PT）G20210A、因子（F）V G1691A突变以及蛋白C、蛋白S和抗凝血酶的遗传性缺乏。然而，关于这些危险因素在儿童和青少年血栓形成中的相关性数据有限。因此，我们调查了119例0至18岁自发性静脉血栓形成患者及对照组（n = 100），以确定因子V G1691A突变和凝血酶原G20210A变异与血栓形成发作及血栓形成部位的关系。发现以下频率（患者与对照组）、比值比（OR）、95%置信区间（CI）和p值：因子V G1691A，19.3%对5%，OR/CI 4.55/1.66 - 12.5，p = 0.0038；凝血酶原G20210A，8.4%对3%，OR/CI 2.96/0.8 - 11，p = 0.17。在3名儿童（占病例的2.5%）中发现因子V G1691A突变与凝血酶原G20210A变异同时存在，但在对照组中仅出现1次。因子V突变携带者的年龄中位数（范围）为2岁（0至17岁），与携带凝血酶原变异的患者相比显著更年轻（16岁：0至18岁，p < 0.001）。因子V突变携带者的血管意外发生在腿部深静脉（n = 11）、脑静脉（n = 4）、肾静脉（n = 3）和门静脉（n = 2）。凝血酶原突变患者多数情况下在腿部深静脉（n = 5）和中枢神经系统（n = 2）出现自发性血栓形成。在1例肾静脉血栓形成的新生儿和2例深静脉血栓形成的青少年中发现了联合缺陷。
此处呈现的数据表明，杂合子因子V突变是婴儿期和幼儿期自发性血栓形成最常见的促血栓形成危险因素。相比之下，凝血酶原G20210A变异在青春期和青少年期可能更为重要。
