Ardlie N G, Coupland W W, Schoefl G I
Aust N Z J Med. 1976 Feb;6(1):37-45. doi: 10.1111/j.1445-5994.1976.tb03289.x.
A family with a bleeding disorder due to congenital thrombocytopenic thrombocytopathy is described, with ten affected members in three generations. The disorder is inherited as an autosomal dominant trait and is characterized by thrombocytopenia, morphologically abnormal platelets, prolonged bleeding time, platelet coagulant activity deficiency and abnormal platelets, prolonged bleeding time, platelet coagulant activity deficiency and abnormal platelet aggregation. Patients' platelets adhered to collagen, but aggregation was reversible and the release of platelet constituents was minimal. Aggregation with ADP was similarly reversible, but the platelet response to thrombin was normal. These defects in platelet aggregation and release were not corrected by addition of normal plasma indicating an intrinsic abnormality of platelets. By definition thrombocytopathy consists of a deficiency in platelet coagulant activity. It was shown that the deficiency of platelet coagulant activity caused a delay and decrease in the conversion of prothrombin to thrombin, and it is proposed that the lack of thrombin accounts for the defective release reaction and the reversible aggregation. An adequate haemostatic plug due to decreased release of ADP, together with instability of the plug provide an explanation for the bleeding tendency in thrombocytopathy.
本文描述了一个因先天性血小板减少性血小板病而患有出血性疾病的家族，三代中有十名患病成员。该疾病作为常染色体显性性状遗传，其特征为血小板减少、形态异常的血小板、出血时间延长、血小板凝血活性缺乏以及异常的血小板聚集。患者的血小板黏附于胶原蛋白，但聚集是可逆的，且血小板成分的释放极少。与二磷酸腺苷（ADP）的聚集同样是可逆的，但血小板对凝血酶的反应正常。添加正常血浆并不能纠正这些血小板聚集和释放缺陷，这表明血小板存在内在异常。根据定义，血小板病包括血小板凝血活性缺乏。研究表明，血小板凝血活性缺乏导致凝血酶原向凝血酶转化延迟且减少，有人提出凝血酶缺乏是释放反应缺陷和可逆性聚集的原因。由于ADP释放减少导致形成的止血栓不足，再加上止血栓不稳定，这就解释了血小板病中的出血倾向。
