Mazurov A V, Vinogradov D V, Khaspekova S G, Krushinsky A V, Gerdeva L V, Vasiliev S A
Institute of Experimental Cardiology, Cardiology Research Center, Moscow, Russia.
Eur J Haematol. 1996 Jul;57(1):38-41. doi: 10.1111/j.1600-0609.1996.tb00487.x.
Patient B.G. is a 29-yr-old female with a lifelong bleeding disorder characterized clinically by a highly increased bleeding time, menorrhagias, long-lasting bleeding after cuts and tooth extractions and large post-traumatic haematomas. Her coagulation tests were within normal range, platelet count was 140,000-160,000 per microliters, but platelet function was impaired as demonstrated by the absence of collagen-induced aggregation, although no abnormalities were detected in aggregation response to ADP and ristocetin. Morphologically her platelets were characterized by gigantic size-average profile area was about 2.5 times higher than that of control donors, and severe deficiency of alpha-granules-only 16% of their number in control donors. These features taken together indicated the diagnosis of grey platelet syndrome. As has been shown by quantitative immunoblotting, patient's platelets contained small amounts of alpha-granule membrane protein P-selectin-about 15% of that in control donors. The content of plasma membrane glycoproteins IIb-IIIa and Ib was not reduced, suggesting the specific deficiency of alpha-granule membrane protein. Thus, B.G. is the second patient described in the literature (see also Lages et al, J Clin Invest 1991: 87: 919-929) with combined deficiency of alpha-granules and P-selectin.
患者B.G. 是一名29岁女性，患有终生性出血性疾病，临床特征为出血时间显著延长、月经过多、割伤和拔牙后长期出血以及创伤后出现大血肿。她的凝血测试结果在正常范围内，血小板计数为每微升140,000 - 160,000，但血小板功能受损，表现为缺乏胶原诱导的聚集，尽管对ADP和瑞斯托霉素的聚集反应未检测到异常。形态学上，她的血小板特征为巨大尺寸——平均轮廓面积比对照供体高约2.5倍，且α颗粒严重缺乏——其数量仅为对照供体的16%。综合这些特征表明诊断为灰色血小板综合征。定量免疫印迹显示，患者的血小板含有少量α颗粒膜蛋白P选择素——约为对照供体的15%。质膜糖蛋白IIb - IIIa和Ib的含量未降低，提示α颗粒膜蛋白存在特异性缺乏。因此，B.G. 是文献中描述的第二例（另见Lages等人，《临床研究杂志》1991年：87：919 - 929）α颗粒和P选择素联合缺乏的患者。
