Owen C A, Henriksen R A, McDuffie F C, Mann K G
Mayo Clin Proc. 1978 Jan;53(1):29-33.
The rarest of reported inherited plasmatic coagulopathies involve prothrombin. Only 10 families with significant reductions of this plasma protein (hypoprothrombinemia) have been observed. Even fewer, six families, have been found to have a functionally abnormal prothrombin (dysprothrombinemia) in their blood. An as yet undefined prothrombin abnormally has been recognized in eight other families. One of the first patients previously identified by Quick and his associates as having a defect in her plasma prothrombin has been shown to have about half the normal amount of prothrombin antigen but virtually no prothrombic function. We propose that this dysprothrombin be designated prothrombin Quick. An additional patient also first described by Quick was found to be truly hypoprothrombinemic--that is, to lack both functional and antigenic prothrombin. Briefly summarized are the other five families with dysprothrombinemia, nine with hypoprothrombinemia, and the eight in whom the defect has not been classified.
据报道，最罕见的遗传性血浆凝血障碍涉及凝血酶原。仅观察到10个家庭出现这种血浆蛋白显著减少（低凝血酶原血症）的情况。血液中发现功能性异常凝血酶原（异常凝血酶原血症）的家庭更少，只有6个。在其他8个家庭中还发现了一种尚未明确的凝血酶原异常情况。Quick及其同事之前首次鉴定出的一名血浆凝血酶原存在缺陷的患者，其凝血酶原抗原量约为正常量的一半，但几乎没有凝血功能。我们建议将这种异常凝血酶原命名为Quick凝血酶原。Quick首次描述的另一名患者被发现确实是低凝血酶原血症患者，即既缺乏功能性凝血酶原，也缺乏抗原性凝血酶原。简要总结了另外5个异常凝血酶原血症家庭、9个低凝血酶原血症家庭，以及缺陷尚未分类的8个家庭。
