Bunescu A, Lindahl T, Solum N O, Schulman S, Larsson A, Lundahl J, Egberg N
Department of Clinical Chemistry, Karolinska Hospital, Stockholm, Sweden.
Thromb Res. 1994 Dec 1;76(5):441-50. doi: 10.1016/0049-3848(95)90176-g.
Bernard-Soulier syndrome is a rare, congenital bleeding disorder caused by absent or defective GP Ib platelet membrane receptor for the von Willebrand factor (vWF). We studied two brothers with moderate bleeding symptoms. Bleeding time was prolonged and ristocetin-induced platelet aggregation was absent. Flow cytometric analysis showed that both boys had a subnormal expression of GP Ib. One antibody used (AN51) was bound only to 30% of the platelets and at a subnormal density. A second antibody (SZ2) also bound at a subnormal density but a normal fraction of the platelets were immunoreactive. Ristocetin stimulation of the patients' platelets in the presence of plasma resulted in a low binding of vWF, about 30% of healthy controls. On the other hand the expression of GP IIb/IIIa on the platelet membrane appeared to be supernormal even when the increased platelet size was taken into account as shown by the ratio between the density of GP IIIa and CD 9 structures. We conclude that these brothers have a variant of the Bernard-Soulier syndrome with a low expression of a GP Ib receptor.
伯纳德-苏利耶综合征是一种罕见的先天性出血性疾病，由血管性血友病因子（vWF）的血小板膜糖蛋白Ib受体缺失或缺陷引起。我们研究了两名有中度出血症状的兄弟。出血时间延长，瑞斯托霉素诱导的血小板聚集缺失。流式细胞术分析显示，两个男孩的糖蛋白Ib表达均低于正常水平。使用的一种抗体（AN51）仅与30%的血小板结合，且密度低于正常水平。第二种抗体（SZ2）结合密度也低于正常水平，但免疫反应性血小板的比例正常。在血浆存在的情况下，用瑞斯托霉素刺激患者的血小板，vWF的结合率较低，约为健康对照的30%。另一方面，即使考虑到血小板大小增加，血小板膜上糖蛋白IIb/IIIa的表达似乎仍高于正常水平，这由糖蛋白IIIa和CD 9结构的密度比所示。我们得出结论，这些兄弟患有伯纳德-苏利耶综合征的一种变体，其糖蛋白Ib受体表达较低。
