Green D, Ts'ao C H, Cohen I, Rossi E C
Br J Haematol. 1981 Aug;48(4):595-600. doi: 10.1111/j.1365-2141.1981.00595.x.
We evaluated eight patients from four families because of a history of excessive bleeding. Most patients had prolonged bleeding times, absent secondary wave of platelet aggregation in response to epinephrine, collagen and adenosine diphosphate (ADP), and defective 14C-serotonin release and platelet factor 3 availability. These findings are characteristic of a platelet release defect. Electron-microscopy examination of the platelets of seven patients revealed a common abnormality. From 30% to 70% of the platelets in any given sample exhibited a prominent membrane complex and dilated, tortuous surface-connected canalicular system ('swiss-cheese' platelet). In two patients there was coincident storage-pool disease, but the remainder had adequate dense bodies and a normal ratio of ATP to ADP. SDS-polyacrylamide gel electrophoresis of platelet proteins and glycoproteins showed no abnormalities. The patency of the canalicular system was demonstrated in one patient by the observation that dense bodies appeared in the cannaliculi and outside the platelets following collagen-induced aggregation of polylysine-treated platelets. Since platelet-aggregation responses to the calcium ionophore A23187 were normal, we conclude that the defective platelet function in these patients may be due to impaired calcium mobilization from the morphologically abnormal membrane complex.
我们对来自四个家族的八名患者进行了评估，这些患者均有出血过多的病史。大多数患者出血时间延长，对肾上腺素、胶原和二磷酸腺苷（ADP）的血小板聚集第二波缺失，14C - 5 - 羟色胺释放及血小板因子3活性存在缺陷。这些发现是血小板释放缺陷的特征。对七名患者的血小板进行电子显微镜检查发现了一个共同的异常情况。在任何给定样本中，30%至70%的血小板呈现出突出的膜复合物以及扩张、扭曲的表面连接小管系统（“瑞士奶酪”样血小板）。两名患者同时存在储存池病，但其余患者致密体充足且ATP与ADP比例正常。血小板蛋白质和糖蛋白的十二烷基硫酸钠 - 聚丙烯酰胺凝胶电泳未显示异常。在一名患者中，通过观察聚赖氨酸处理的血小板在胶原诱导聚集后致密体出现在小管和血小板外，证明了小管系统的通畅性。由于血小板对钙离子载体A23187的聚集反应正常，我们得出结论，这些患者血小板功能缺陷可能是由于从形态异常的膜复合物中钙动员受损所致。
