伯纳德-索利尔综合征：膜糖蛋白Ib表达的流式细胞术分析

Bernard-Soulier syndrome: a flow cytometric analysis of membrane GP-Ib expression.

作者信息

Yeşilipek M A, Karadoğan I, Undar L

机构信息

Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya.

出版信息

Turk J Pediatr. 1996 Jul-Sep;38(3):375-9.

Abstract

A case of Bernard-Soulier syndrome in a five-year-old female is presented. The diagnosis was confirmed by flow cytometric analysis of glycoprotein Ib (CD 42b) in addition to the patient's classic laboratory findings such as prolonged bleeding time, mild thrombocytopenia, large platelets and failure of platelet aggregation with ristocetin. Her parents and sibling had normal coagulation tests and CD 42b levels. It is emphasized that flow cytometric analysis is useful in the confirmation of congenital platelet function defects.

摘要

本文报告了一例5岁女性的伯纳德-索利尔综合征病例。除了患者典型的实验室检查结果，如出血时间延长、轻度血小板减少、大血小板以及瑞斯托霉素诱导的血小板聚集功能障碍外，还通过糖蛋白Ib（CD 42b）的流式细胞术分析确诊。她的父母和兄弟姐妹凝血试验及CD 42b水平均正常。强调流式细胞术分析有助于先天性血小板功能缺陷的确诊。

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