巨大血小板综合征1例并文献复习  

Bernard-Soulier syndrome:a case report and review of the literature

作　　者：王立茹[1] 郑义[1] 王敏[1] 刘红星[2] 

机构地区：[1]首都医科大学附属复兴医院血液科,北京100038 [2]北京道培医院特检中心

出　　处：《临床血液学杂志》2011年第1期25-27,共3页Journal of Clinical Hematology

摘　　要：目的:探讨巨大血小板综合征的临床特征和诊断要点。方法:报道1例巨大血小板综合征,通过详细采集病史、血常规、末梢血涂片、流式细胞术等检查进行诊断,聚合酶链反应和基因序列分析血小板膜表面糖蛋白Ⅰb和Ⅸ基因,并对其直系亲属进行相关检查。结果:根据父母为近亲结婚,患者自幼出血、血小板减少、血小板形态巨大以及血小板膜表面糖蛋白Ⅰb-Ⅸ-Ⅴ(GPⅠb-Ⅸ-Ⅴ)复合物表达低下诊断巨大血小板综合征。但是未发现血小板膜表面糖蛋白Ⅰb和Ⅸ基因缺陷。其父母、胞弟无出血倾向,血常规、血小板膜表面糖蛋白Ⅰb和Ⅸ基因以及GPⅠb-Ⅸ-Ⅴ表达正常。结论:巨大血小板综合征为少见的常染色体隐性遗传病,流式细胞术检测血小板膜表面糖蛋白Ⅰb-Ⅸ-Ⅴ复合物表达是诊断的重要方法,基因转录调控水平异常可能是本例患者GPⅠb-Ⅸ-Ⅴ表达减低的原因。Objective：To study the clinical feature and effective diagnosis of Bernard-soulier syndrome （BSS）.Method：A patient whose parents were close relatives was examined with blood cell counts and blood smear for the detection of thrombocytopenia and morphological abnormalities of platelets. The platelet surface glycoprotein expression by flow cytometry was assessed. Amplication of the platelet surface glycoproteins gene by PCR and DNA sequence analysis for these genes were analyzed. Result：Based on the bleeding tendency,giant platelets,low platelet counts and low levels of platelet GP Ⅰb-Ⅴ-Ⅸ complex,this patient was diagnosed as BSS. However,no gene abnormalities of GP Ⅰb and GP Ⅸ were found in this patient. No abnormalities of GP Ⅰb and GP Ⅸ gene and GP Ⅰb-Ⅴ-Ⅸ complex were found in her parents and brother.Conclusion：BSS is a rare inherited platelet disorder,which is transmitted in an autosomal recessive manner. Flow cytometry analysis of the platelet surface glycoprotein expression plays an important role in the diagnosis of BSS. Although no abnormal genetype was found in this patient,translation defect may be the reason of low expression of platelet GP Ⅰb-Ⅴ-Ⅸ complex.

关 键 词：血小板减少 巨大血小板综合征 流式细胞术 

分 类 号：R558[医药卫生—血液循环系统疾病]