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西班牙年轻静脉血栓栓塞性疾病患者中活化蛋白C抵抗和凝血因子V莱顿突变的发病率及临床表现

Incidence and clinical manifestations of activated protein C resistance and factor V Leiden in young patients with venous thromboembolic disease in Spain.

作者信息

Olave T, Cornudella R, Homs C, Azaceta G, Tirado I, Gutierrez M

出版信息

Haematologica. 1998 Apr;83(4):378-80.

PMID:9592991
Abstract

In order to evaluate the actual incidence and clinical repercussion of activated protein C resistance (APCR) in our area, we performed a coagulation and thrombophillic study on 65 young patients diagnosed with deep vein thrombosis and 53 controls. Family and genetic study was carried out in APC-resistant patients. We found APCR in 26.15% of patients and the 77.7% of these and their relative were heterozygous for factor V Leiden. There's a clear relationship between phenotype APCR and thrombosis, and also between factor V Leiden and thrombosis.

摘要

为评估本地区活化蛋白C抵抗(APCR)的实际发生率及其临床影响,我们对65例诊断为深静脉血栓形成的年轻患者及53例对照者进行了凝血和血栓形成倾向研究。对APCR抵抗患者进行了家族和遗传学研究。我们发现26.15%的患者存在APCR,其中77.7%的患者及其亲属为因子V莱顿杂合子。APCR表型与血栓形成之间、因子V莱顿与血栓形成之间均存在明显关联。

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