Activated protein C resistance phenotype and genotype in patients with primary antiphospholipid syndrome
Activated protein C resistance phenotype and genotype in patients with primary antiphospholipid syndrome
复制标题
原发性抗磷脂综合征患者的活化蛋白C抵抗表型和基因型
DOI：
10.1097/00001721-199604000-00009
复制
发表时间：
1996
影响因子：
1.1
通讯作者：
A. Ruiz
中科院分区：
文献类型：
--
作者：
G. Ruiz;J. Garcés‐Eisele;D. Alarcon;A. Ruiz
我们研究了 22 名原发性抗磷脂综合征 (APS) 患者的遗传性和获得性活化蛋白 C (APC) 耐药性。使用基于 PCR 的因子 V R506Q (Leiden) 突变分析来评估 APC 抗性基因型。一名原发性 APS 患者被发现为 V 因子 Leiden 突变杂合子。他和其他家庭成员患有严重的血栓形成倾向，并且患有家族性原发性 APS。通过测量响应 APC 的活化部分凝血活酶凝血时间的延长来评估 APC 抗性表型。在六名 APS 患者中，有五名发现了这种情况，其中一名患者是短暂的。我们发现 APC 耐药表型比原发性 APS 中的基因型更常见。即使发现有抗磷脂抗体和/或狼疮抗凝剂，血栓形成倾向患者似乎也应该接受 APC 耐药性检查。
We studied both inherited and acquired activated protein C (APC) resistance in a group of 22 patients with primary antiphospholipid syndrome (APS). The APC resistance genotype was assessed using a PCR-based analysis for the factor V R506Q (Leiden) mutation. One patient with primary APS was found to be heterozygous for the factor V Leiden mutation. He and other family members were affected by severe thrombophilia and had a familial form of primary APS. The APC resistance phenotype was assessed by measuring the prolongation of the activated partial thromboplastin clotting time in response to APC. It was found in five out of six patients with APS, in one of them transiently. We have found that the APC resistance phenotype is more frequent than the genotype in primary APS. It would seem that patients with thrombophilia should be investigated for APC resistance even if found to have antiphospholipid antibodies and/or lupus anticoagulants.