摘要
目的 研究 1例具有异常结构巨大血小板的自发性聚集患者的病理和临床特征。方法 光学显微镜与电子显微镜观察血小板形态与结构。比浊法测定血小板聚集。流式细胞术检测血小板膜糖蛋白 (GP)。PCR扩增与DNA序列分析确定基因异常。结果 患者的血小板体积巨大 ,胞膜粗厚 ,胞浆内颗粒增多而形态异常。血小板自发性聚集 ,阿司匹林或噻氯匹啶无抑制作用。血小板膜GPⅠb、GPⅡb、GPⅢa和P选择素的表达正常。GPⅠbα、GPⅠbβ与GPⅨ基因分析正常。 结论 本例患者的血小板结构和功能异常不同于文献报道的各种遗传性巨大血小板疾病 ,可能代表了一种新的先天性的血小板病。
Objective To study the pathological and clinical characteristics of a patient with spontaneous platelet aggregation of his giant and morphologically abnormal platelets. Methods Platelet size and structure were observed under light microscope and electron microscope. Platelet aggregation was measured turbidometrically. Platelet glycoproteins (GP) were analyzed using flow cytometry. PCR and DNA sequencing were performed to identify the gene abnormality. Results The patient had spontaneous platelet aggregation of giant platelets with thickened plasma membrane and increased number of granules in various shapes. Aspirin and ticlopidine did not affect the spontaneous aggregation. The expression of GPⅠb, GPⅡb, GPⅢa and P-selectin in the platelet membrane were in normal range. Results of gene analyses for GPⅠbα, GPⅠbβ and GPⅨ were also normal. Conclusion Both morphological and functional abnormalities of the platelets from the patient were clearly distinguishable from that of other hereditary giant platelet disorders. It would probably represent a novel platelet disorder which had not been reported to date.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2002年第3期121-125,共5页
Chinese Journal of Hematology
基金
国家自然科学基金资助项目 ( 39870 343)
江苏省卫生厅基金资助项目 (H9910 )
