Patrassi G M, Sartori M T, Viero M L, Boscaro M, Boeri G, Girolami A
Second Chair of Medicine, University of Padua Medical School, Italy.
Blood Coagul Fibrinolysis. 1991 Apr;2(2):231-5. doi: 10.1097/00001721-199104000-00003.
Thrombotic events are often due to fibrinolytic defects such as impaired tissue plasminogen activator (tPA) synthesis and/or release or increased plasminogen activator inhibitor (PAI) levels. In this report we describe four members of a family with a history of recurrent venous thrombosis, who demonstrated defective tPA release after dynamic tests. Two symptomatic patients and one asymptomatic individual showed absent or abnormally low tPA antigen (tPA:Ag) and activity (PA) increases after DDAVP infusion and/or 20 min of venous occlusion. In these patients PAI values were slightly higher than controls. A satisfactory tPA:Ag release was found in the fourth asymptomatic patient. All other coagulation tests were within the normal ranges. This familial defect of the fibrinolytic system seems to be inherited as an autosomal trait.
血栓形成事件通常归因于纤维蛋白溶解缺陷，如组织纤溶酶原激活物（tPA）合成和/或释放受损，或纤溶酶原激活物抑制剂（PAI）水平升高。在本报告中，我们描述了一个有复发性静脉血栓形成病史的家族中的四名成员，他们在动态试验后显示tPA释放存在缺陷。两名有症状的患者和一名无症状个体在输注去氨加压素（DDAVP）和/或静脉闭塞20分钟后，tPA抗原（tPA:Ag）和活性（PA）未增加或异常降低。这些患者的PAI值略高于对照组。在第四名无症状患者中发现了令人满意的tPA:Ag释放。所有其他凝血试验均在正常范围内。这种纤维蛋白溶解系统的家族性缺陷似乎作为常染色体性状遗传。
