Marciniak E, Greenwood M F
Blood. 1979 Jan;53(1):81-92.
A 14-yr-old girl Down syndrome developed a unique type of circulating inhibitor causing a mild bleeding tendency and interfering strongly with coagulation tests, including reptilase time, and with the reaction of purified fibrinogen and thrombin. The concentration of all coagulation factors was normal. The inhibitor had no direct effect on thrombin activity or on the aggregation of fibrin monomer in plasma. Chromatography on DEAE-cellulose and neutralization by immune sera revealed that the inhibitor was an immunoglobulin of IgG class with both kappa and lambda determinants. Isolated inhibitor delayed the release of fibrinopeptide A from a normal fibrinogen reacting with thrombin and retarded the onset of visible clotting, but had no effect on the the final degree of clottability. The clinical and laboratory features of this patient resemble those of patients with congenital dysfibrinogenemia associated with abnormal fibrinopeptide release.
一名14岁的唐氏综合征女孩出现了一种独特类型的循环抑制剂，导致轻度出血倾向，并强烈干扰凝血试验，包括蛇毒凝血酶时间，以及干扰纯化纤维蛋白原与凝血酶的反应。所有凝血因子的浓度均正常。该抑制剂对凝血酶活性或血浆中纤维蛋白单体的聚集没有直接影响。在二乙氨基乙基纤维素上进行色谱分析以及用免疫血清中和表明，该抑制剂是一种具有κ和λ决定簇的IgG类免疫球蛋白。分离出的抑制剂延迟了正常纤维蛋白原与凝血酶反应时纤维蛋白肽A的释放，并延缓了可见凝血的开始，但对最终的可凝性程度没有影响。该患者的临床和实验室特征与伴有异常纤维蛋白肽释放的先天性异常纤维蛋白原血症患者相似。
