Arruda V R, Belangero W D, Ozelo M C, Oliveira G B, Pagnano R G, Volpon J B, Annichino-Bizzacchi J M
Hematology-Hemotherapy Center, State University of Campinas, Campinas-SP, Brazil.
J Pediatr Orthop. 1999 Jan-Feb;19(1):84-7.
An inherited tendency to hypercoagulability has been suggested as a cause of vascular thrombosis resulting in Legg-Calvé-Perthes disease (LCPD). Here we carried out an investigation of the most common inherited risk factors for hypercoagulability including the mutation in the factor V gene (factor V Leiden), the transition 20.210G-->A in the prothrombin gene, and also the homozygosity for the 677C-->T transition in the methylenetetrahydrofolate reductase gene (MTHFR). The investigation was carried out among 61 Brazilian children with LCPD, who were compared with 296 individuals from the general population. The prevalence of the factor V Leiden mutation was higher in LCPD patients than in the controls (4.9 vs. 0.7%; p = 0.03). However, no patient had the prothrombin gene variant, and no difference was found between patients and controls when homozygosity for MTHFR-T (3.2 vs. 2.6%: p = 0.64) was determined. These data suggest that in our population, the heterozygosity for factor V Leiden was the only inherited risk factor associated with the development of LCPD.
遗传性高凝倾向被认为是导致Legg-Calvé-Perthes病（LCPD）血管血栓形成的一个原因。在此，我们对高凝最常见的遗传性风险因素进行了调查，包括凝血因子V基因的突变（凝血因子V莱顿突变）、凝血酶原基因20210G→A的转变，以及亚甲基四氢叶酸还原酶基因（MTHFR）677C→T转变的纯合性。该调查在61名患有LCPD的巴西儿童中进行，并与296名普通人群个体进行比较。LCPD患者中凝血因子V莱顿突变的患病率高于对照组（4.9%对0.7%；p = 0.03）。然而，没有患者有凝血酶原基因变异，并且在确定MTHFR-T纯合性时，患者与对照组之间未发现差异（3.2%对2.6%：p = 0.64）。这些数据表明，在我们的人群中，凝血因子V莱顿杂合性是与LCPD发生相关的唯一遗传性风险因素。
