Ingerman C M, Smith J B, Shapiro S, Sedar A, Silver M J
Blood. 1978 Aug;52(2):332-44.
An abnormality of platelet aggregation has been detected in six family members with mild bleeding tendencies. In citrated platelet-rich plasma, primary aggregation induced by ADP or epinephrine and agglutination in response to ristocetin were present but second wave aggregation and aggregation in response to collagen suspension were absent or greatly reduced. Sodium arachidonate-induced aggregation was normal although aggregation in response to prostaglandin G2 was reduced and depended entirely on the presence of plasma or ADP. Further tests indicated that the platelets produced prostaglandins but did not release ATP in response to thrombin or sodium arachidonate. Platelets from the patients were found to contain reduced amounts of ADP and 5-hydroxytryptamine and to be unable to retain radioactivity during prolonged incubation at 37 degree C with radiolabeled 5-hydroxytryptamine. Although electron microscopy revealed an absence of very dense bodies, the platelets appeared otherwise normal. The findings are discussed in relation to previous studies of nucleotide storage pool deficiency and the light they shed on platelet physiology in general.
在六个有轻度出血倾向的家族成员中检测到血小板聚集异常。在枸橼酸化富血小板血浆中，存在由ADP或肾上腺素诱导的初级聚集以及对瑞斯托霉素的凝集反应，但第二波聚集以及对胶原悬液的聚集反应缺失或大大降低。花生四烯酸钠诱导的聚集正常，尽管对前列腺素G2的聚集反应降低且完全依赖于血浆或ADP的存在。进一步测试表明，血小板产生前列腺素，但对凝血酶或花生四烯酸钠不释放ATP。发现患者的血小板中ADP和5-羟色胺含量降低，并且在37℃下与放射性标记的5-羟色胺长时间孵育期间无法保留放射性。尽管电子显微镜显示不存在非常致密的小体，但血小板在其他方面看起来正常。结合先前关于核苷酸储存池缺乏的研究以及它们对一般血小板生理学的启示对这些发现进行了讨论。
