Hougie C, Mc Pherson R A, Brown J E, Lakin-Thomas P L, Melaragno A, Aronson L, Baugh R F
N Engl J Med. 1978 May 11;298(19):1045-8. doi: 10.1056/NEJM197805112981902.
We studied a coagulation abnormality present in 12 members of five kindreds who bruised easily and bled excessively after minor trauma. Their activated partial thromboplastin times were between 32 and 39 seconds (normal, 22.8 to 28.8 seconds). Prothrombin times, thrombin times, platelet-function tests and the levels of factors XII, XI, IX, VIII, prekallikrein and high-molecular-weight kininogen were normal. Within these kindreds inheritance of prolonged partial thromboplastin times followed an autosomal and probably dominant pattern. The prolonged thromboplastin times were corrected by normal plasma and by normal plasma adsorbed with celite, but there was no mutual correction between plasmas of the patients. These subjects shared a common defect in the intrinsic pathway of coagulation that we designate by the proband's surname, Passovoy.
我们研究了五个家族中12名成员存在的凝血异常情况，这些成员容易出现瘀伤，在轻微创伤后会过度出血。他们的活化部分凝血活酶时间在32至39秒之间（正常范围为22.8至28.8秒）。凝血酶原时间、凝血酶时间、血小板功能测试以及因子XII、XI、IX、VIII、前激肽释放酶和高分子量激肽原的水平均正常。在这些家族中，部分凝血活酶时间延长的遗传遵循常染色体且可能为显性模式。延长的凝血活酶时间可被正常血浆和用硅藻土吸附的正常血浆纠正，但患者血浆之间不存在相互纠正的情况。这些受试者在凝血内源性途径中存在共同缺陷，我们以先证者的姓氏帕索沃伊（Passovoy）来命名该缺陷。
