Junker R, Koch H G, Auberger K, Münchow N, Ehrenforth S, Nowak-Göttl U
Institute of Clinical Chemistry and Laboratory Medicine, Westfälische Wilhelms-Universität Münster, Germany.
Arterioscler Thromb Vasc Biol. 1999 Oct;19(10):2568-72. doi: 10.1161/01.atv.19.10.2568.
Risk factors for venous thrombosis in adults are the prothrombin G20210A and the factor V (FV) 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 261 patients aged 0 to 18 (median 5.7 years, 48% male) with venous thrombosis and controls (n=370) for the presence of prothrombotic risk factors including the prothrombin G20210A mutation. The following frequencies of hereditary risk factors (patients versus controls), odds ratios (OR) and 95% confidence intervals (CI), or results of Fisher's exact test, respectively, were found: prothrombin G20210A, 4.2% versus 1.1%, OR/CI 4.1/1.3 to 12.8; FV G1691A, 31.8% versus 4. 1%, OR/CI 11.0/6.2 to 19.7; protein C deficiency, 9.2% versus 0.8%, OR/CI 12.4/3.7 to 41.6, protein S deficiency, 5.7% versus 0.8%, OR/CI 7.5/2.1 to 26.0; antithrombin deficiency in 3.4% in the patients, but not in the controls, P=0.0003. The prothrombin mutation was combined with the heterozygous FV G1691A mutation (2. 3%) or protein C deficiency (0.3%) in the patients, but not in the controls (prothrombin and FV mutation, P=0.0048; prothrombin and protein C deficiency, not significant). The carrier frequencies and ORs of all hereditary risk factors showed a non-significant trend toward higher prevalences in patients suffering spontaneous thrombosis, compared with those with an additional underlying disease. In conclusion, the prothrombin G20210A and the FV G1691A mutation, deficiencies of protein C, protein S, and antithrombin are important risk factors for venous thrombosis during childhood and adolescence.
成人静脉血栓形成的危险因素包括凝血酶原G20210A突变、因子V（FV）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的数据有限。因此，我们调查了261例年龄在0至18岁（中位年龄5.7岁，48%为男性）的静脉血栓形成患者以及对照组（n = 370），以确定是否存在包括凝血酶原G20210A突变在内的血栓形成前危险因素。分别发现了以下遗传性危险因素的频率（患者与对照组）、比值比（OR）和95%置信区间（CI），或Fisher精确检验结果：凝血酶原G20210A，4.2%对1.1%，OR/CI为4.1/1.3至12.8；FV G1691A，31.8%对4.1%，OR/CI为11.0/6.2至19.7；蛋白C缺乏，9.2%对0.8%，OR/CI为12.4/3.7至41.6；蛋白S缺乏，5.7%对0.8%，OR/CI为7.5/2.1至26.0；患者中抗凝血酶缺乏率为3.4%，而对照组中无，P = 0.0003。患者中凝血酶原突变与杂合子FV G1691A突变（2.3%）或蛋白C缺乏（0.3%）合并存在，但对照组中未出现（凝血酶原和FV突变，P = 0.0048；凝血酶原和蛋白C缺乏，无显著性差异）。与患有其他基础疾病的患者相比，所有遗传性危险因素的携带频率和OR在自发性血栓形成患者中呈现出患病率较高的非显著性趋势。总之，凝血酶原G20210A和FV G1691A突变、蛋白C、蛋白S和抗凝血酶缺乏是儿童和青少年时期静脉血栓形成的重要危险因素。
