自从Weiss(1967)等报道血小板缺陷疾病以来,有关本组疾病的病理生理学已有实质性进展。至少分两型;(1)贮存池疾病,为非代谢性贮存池ADP量减少;(2)原发性释放性疾病,贮存池ADP量正常,而对刺激作用的释放反应有缺陷,其遗传性质尚未明了,而且原发性释放性疾病是否就是该病的真正实质尚有疑问,这是因为应用阿斯匹林或抑制血小板释放反应的其他药物也可引起类似血小板异常的缘故。本文研究一个先天性出血性疾病的家族,很明显,系由 Since Weiss (1967) and other reports of platelet-deficient diseases, there have been substantial advances in the pathophysiology of this group of diseases. At least in two types; (1) storage pool disease, reducing the amount of ADP in non-metabolic reservoirs; (2) primary release disease, normal ADP in storage pool, and defective release response to stimuli, The nature of the disease is unknown, and whether or not the primary release disease is the true nature of the disease is questionable, as other drugs that use aspirin or inhibit platelet release may also cause similar platelet abnormalities. This article examines a family of congenital hemorrhagic disease that is evidently caused by