de Moerloose P A, Reber G, Vernet P, Minazio P, Bouvier C A
Thromb Haemost. 1987 Apr 7;57(2):154-7.
A 43-year-old man presented a pulmonary embolism. The unusual circumstances of apparition, the age and the increased heparin requirements suggested an antithrombin III (AT III) deficiency. AT III activity was low in the propositus and seven other members of his family (mean 55%), but immunologic levels were normal (mean 110%). Crossed immunoelectrophoresis in absence of heparin showed a normal pattern, but in presence of heparin showed an abnormal peak as compared with controls. Kinetics experiments showed a normal inhibition of thrombin and Xa in absence of heparin, but abnormal in presence of heparin. Affinity chromatography on heparin-Sepharose revealed two populations of AT III, one of which was devoid of heparin cofactor activity. The toponym AT III Geneva is proposed for this new familial abnormal AT III with defective heparin cofactor activity.
一名43岁男性出现肺栓塞。其发病的特殊情况、年龄以及对肝素需求的增加提示抗凝血酶III（AT III）缺乏。先证者及其家族中其他7名成员的AT III活性较低（平均55%），但免疫水平正常（平均110%）。在无肝素情况下进行的交叉免疫电泳显示模式正常，但在有肝素情况下与对照组相比出现异常峰。动力学实验表明，在无肝素情况下对凝血酶和Xa的抑制正常，但在有肝素情况下异常。肝素-琼脂糖亲和层析显示有两种AT III群体，其中一种缺乏肝素辅因子活性。对于这种具有缺陷肝素辅因子活性的新型家族性异常AT III，建议命名为AT III日内瓦型。
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