Cohn R J, Sherman G G, Glencross D K
Department of Paediatrics, University of the Witwatersrand, Johannesburg, South Africa.
Pediatr Hematol Oncol. 1997 Jan-Feb;14(1):43-50. doi: 10.3109/08880019709030883.
The use of flow cytometry in the diagnosis of Bernard-Soulier syndrome (BSS) in patients with giant platelets and thrombocytopenia was investigated as an adjunct to ristocetin-induced platelet aggregation (RIPA) studies because of problems experienced with aggregation studies, particularly at the time of presentation, in the pediatric age group. Eight patients suspected of having BSS were studied with respect to platelet expression of glycoprotein Ib alpha (CD42b) and glycoprotein IIIa (CD61) using an EPICS Profile II flow cytometer. Twelve patients with normal platelet morphology and platelet counts were used as normal controls. One patient with Alport's syndrome, four patients with immune thrombocytopenic purpura (ITP), and one patient with Glanzmann thrombasthenia were also studied. In all eight patients suspected of having BSS, deficiency of glycoprotein Ib alpha was demonstrated. Normal expression was demonstrated in 12 control patients, in one patient with giant platelets with Alport's syndrome, and in four patients with ITP. Absence of glycoprotein IIIa was demonstrated in Glanzmann thrombasthenia. In the pediatric age group one is able to demonstrate abnormalities of platelet membrane glycoprotien in patients with thrombocytopathias using flow cytometry. This method has the advantage of being rapid and can be performed on small volumes of blood suitable for pediatric practice.
由于在儿科年龄组中，尤其是在疾病初发时进行血小板聚集研究存在问题，因此研究了流式细胞术在巨血小板和血小板减少症患者中诊断伯纳德 - 索利尔综合征（BSS）的应用，作为瑞斯托霉素诱导的血小板聚集（RIPA）研究的辅助手段。使用EPICS Profile II流式细胞仪对8名疑似患有BSS的患者进行了糖蛋白Ibα（CD42b）和糖蛋白IIIa（CD61）的血小板表达研究。12名血小板形态和计数正常的患者作为正常对照。还研究了1名阿尔波特综合征患者、4名免疫性血小板减少性紫癜（ITP）患者和1名血小板无力症患者。在所有8名疑似患有BSS的患者中，均证实存在糖蛋白Ibα缺乏。12名对照患者、1名患有巨血小板的阿尔波特综合征患者和4名ITP患者均表现为正常表达。血小板无力症患者中证实不存在糖蛋白IIIa。在儿科年龄组中，使用流式细胞术能够在血小板病患者中检测出血小板膜糖蛋白异常。该方法具有快速且可在适合儿科操作的少量血液上进行检测的优点。
