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Does thrombophilia play an aetiological role in Legg-Calvé-Perthes disease?

机译:血友病是否在Legg-Calvé-Perthes病中起病因作用?

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Heritable thrombophilic disorders have been proposed as one of the causes for Legg-Calvé-Perthes disease. A total of 62 patients diagnosed with this disease between 1988 and 1997 and 50 controls were screened for thrombophilia. The incidence and relationship of thrombophilia to the severity of the disease were evaluated.One patient and none of the controls had protein S deficiency. One of the control group and one of the patients had protein C deficiency with the latter child also having a combined deficiency with a mutant factor V gene.The number of children with a mutant factor V gene, protein C deficiency, who were homozygous for the C 677T polymorphism of methylenetetra-hydrofolate reductase or were heterozygous for mutant G20210A prothrombin did not differ statistically in the study and the control groups. No patient had antithrombin deficiency or positive lupus anticoagulant.We found no correlation between thrombophilia and the extent of the disease. The most common risk factors for arteriovenous thromboembolism showed no statistical significance in our patients compared with the control group or with the general population. These data do not confirm an aetiological role for thrombophilia in Perthes’ disease.
机译:已经提出遗传性血栓形成性疾病是Legg-Calvé-Perthes病的原因之一。在1988年至1997年之间,共对62例被诊断为该病的患者进行了筛查,并筛选了50名对照。评估了血友病的发生率和与疾病严重程度的关系。一名患者且没有对照组患有蛋白S缺乏症。对照组中的一名患者和一名患者患有蛋白C缺乏症,而后者的孩子也患有突变型因子V基因的合并缺乏症。亚甲基四氢叶酸还原酶的C 677T多态性或突变体G20210A凝血酶原是杂合的,在研究组和对照组中无统计学差异。没有患者有抗凝血酶缺乏症或狼疮抗凝剂阳性。我们发现血栓形成与疾病程度之间没有相关性。与对照组或普通人群相比,本组患者中动静脉血栓栓塞的最常见危险因素没有统计学意义。这些数据并未证实血栓形成在Perthes病中的病因学作用。
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