遗传性巨大血小板综合征：一种血小板功能新方面的疾病。
Hereditary giant platelet syndrome: a disorder of a new aspect of platelet function.
作者信息
Howard M A, Hutton R A, Hardisty R M
出版信息
Br Med J. 1973 Jun 9;2(5866):586-8. doi: 10.1136/bmj.2.5866.586.
Abstract
The platelets of three patients with the hereditary giant platelet syndrome of Bernard and Soulier failed to aggregate in response to either ristocetin or bovine fibrinogen. The results of aggregation experiments using mixtures of platelets and plasma suggest that a reaction between a plasma factor deficient in von Willebrand's disease and a platelet component lacking in our patients, and leading to platelet aggregation independently of adenosine diphosphate (ADP), is essential for normal haemostasis.
摘要
三名患有伯纳德-索利尔遗传性巨大血小板综合征的患者的血小板，对瑞斯托菌素或牛纤维蛋白原均无聚集反应。使用血小板与血浆混合物进行的聚集实验结果表明，血管性血友病因子缺乏的血浆因子与我们患者所缺乏的血小板成分之间发生反应，且该反应独立于二磷酸腺苷（ADP）导致血小板聚集，这对于正常止血至关重要。
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