儿童静脉血栓栓塞症中的凝血因子V莱顿突变和凝血酶原基因G20210A突变

Factor V Leiden and prothrombin gene G20210A mutation in children with venous thromboembolism.

作者信息

Bonduel Mariana, Hepner Mirta, Sciuccati Gabriela, Pieroni Graciela, Feliú-Torres Aurora, Mardaraz Claudia, Frontroth Juan Pablo

机构信息

Servicio de Hematología-Oncología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

出版信息

Thromb Haemost. 2002 Jun;87(6):972-7.

PMID:12083504

Abstract

To determine whether factor V Leiden (FVL) and/or prothrombin gene G20210A mutation (PT20210A) are risk factors for venous thromboembolism (VTE) in Argentinean children. One hundred and thirty consecutive children with VTE were prospectively assisted at a single centre. Blood samples were available from 110 of them for detailed haematological analysis. The prevalence of both mutations was compared with a control group. The odds ratio for VTE was significantly increased in patients with FVL (OR 3.64; 95% CI: 1.14-11.6, p < 0.029) whereas odds ratio for VTE was not significantly increased in patients with PT20210A (OR 1.06; 95% CI: 0.24-4.73, p = 0.938). Combined disorders were found in 5 of the 10 children with the aforementioned mutations. In 21 children (19%) without these mutations other inherited and acquired disorders were detected. Our data show that FVL is a risk factor for VTE whereas PT20210A does not seem to be a risk factor in our paediatric population.

摘要

确定因子V莱顿突变（FVL）和/或凝血酶原基因G20210A突变（PT20210A）是否为阿根廷儿童静脉血栓栓塞症（VTE）的危险因素。在单一中心对130例连续的VTE儿童进行前瞻性治疗。其中110例患儿有血样可用于详细的血液学分析。将这两种突变的患病率与一个对照组进行比较。FVL患者发生VTE的比值比显著升高（OR 3.64；95%CI：1.14 - 11.6，p < 0.029），而PT20210A患者发生VTE的比值比未显著升高（OR 1.06；95%CI：0.24 - 4.73，p = 0.938）。在10例有上述突变的儿童中，有5例发现合并其他病症。在21例（19%）无这些突变的儿童中，检测到其他遗传性和获得性病症。我们的数据表明，FVL是VTE的危险因素，而PT20210A在我们的儿科人群中似乎不是危险因素。