López-Franco Mariano, González-Morán Gaspar, De Lucas José Carlos, Llamas Pilar, de Velasco Jaime Fernández, Vivancos José Carlos, Epeldegui-Torre Tomás
Department of Orthopaedic Surgery, Hospital de Móstoles, Madrid, Spain.
J Pediatr Orthop. 2005 Jul-Aug;25(4):456-9. doi: 10.1097/01.bpo.0000158781.29979.cf.
The etiology of Perthes' disease is unclear. Recent reports have suggested that inheritable thrombophilic disorders may be one of its pathogenetic causes. The G20210A prothrombin gene, factor V Leiden, and MTHFR C677T mutations have been identified as predisposing genetic factors for thrombosis. Ninety children diagnosed with Perthes' disease were studied. A family history of thrombosis and any other personal thromboembolic events were researched. PCR and endonuclease digestion were used to analyze factor V Leiden, prothrombin G20210A, and MTHFR C677T. Two hundred healthy donors were included as a control group. No patient had a family or personal history of early thrombotic events. Four children with Perthes' disease (4.4%) were heterozygous for G20210A polymorphism compared with controls (odds ratio: 2.07; 95% confidence interval: 0.40-8.46). No association between factor V Leiden and Perthes' disease was observed. Three patients (3.33%) were heterozygous for factor V Leiden (odds ratio: 1.36; 95% confidence interval: 0.32-5.84). The prevalence of different genotypes of C677T MTHFR did not show statistical differences compared with controls. Eleven patients were homozygous for this polymorphism (odds ratio: 1.02; 95% confidence interval: 0.42-2.44). This study does not support the screening of this group of polymorphism in patients with Perthes' disease.
佩特兹氏病的病因尚不清楚。最近的报告表明，遗传性血栓形成倾向疾病可能是其致病原因之一。凝血酶原基因G20210A、因子V莱顿突变和亚甲基四氢叶酸还原酶C677T突变已被确定为血栓形成的易感遗传因素。对90名被诊断为佩特兹氏病的儿童进行了研究。研究了血栓形成的家族史和任何其他个人血栓栓塞事件。采用聚合酶链反应（PCR）和核酸内切酶消化法分析因子V莱顿突变、凝血酶原G20210A和亚甲基四氢叶酸还原酶C677T。纳入200名健康献血者作为对照组。没有患者有早期血栓形成事件的家族史或个人史。与对照组相比，4名佩特兹氏病患儿（4.4%）为G20210A多态性杂合子（优势比：2.07；95%置信区间：0.40 - 8.46）。未观察到因子V莱顿突变与佩特兹氏病之间存在关联。3名患者（3.33%）为因子V莱顿突变杂合子（优势比：1.36；95%置信区间：0.32 - 5.84）。与对照组相比，亚甲基四氢叶酸还原酶C677T不同基因型的患病率未显示出统计学差异。11名患者为此多态性的纯合子（优势比：1.02；95%置信区间：0.42 - 2.44）。本研究不支持对佩特兹氏病患者进行这组多态性的筛查。
