25例血小板无力症基础和临床分析  

Retrospective study on 25 patients with glanzmann thrombasthenia

作　　者：陈方平[1] 周伯通[1] 解勤之[1] 谭柏林[1] 赵谢兰[1] 蹇在伏[1] 李学渊 曹萍[1] 曹励之[2] 梁莉 林平尔[3] 

机构地区：[1]湖南医科大学湘雅医院血液科,长沙410008 [2]湖南医科大学湘雅医院小儿科 [3]湖南医科大学附属二医院内科

出　　处：《临床血液学杂志》2000年第1期5-7,共3页Journal of Clinical Hematology

基　　金：湖南省自然科学基金

摘　　要：目的：探讨中国人血小板无力症患者的临床和病理特点。方法：分析了２５ 例血小板无力症的临床表现、代偿机制、实验室检查、分子基础、治疗和预防措施。结果：２５ 例血小板无力症患者Ⅰ型２０ 例，Ⅱ型２ 例，变异型３ 例，已鉴定出血小板膜糖蛋白ＧＰⅡｂ，Ⅲａ 基因６ 种类型分子缺陷，包括错义突变、无义突变、剪接点突变和小片段ＤＮＡ丢失。结论：出血症状严重程度和分子缺陷之间无明显关系。Objective:To investigate clinical and pathological features in chinese patients with Glanzmann thrombasthenia.Method:Data of 25 GT patients were retrospectively studied,including clinical demonstration,lab findings,possible compensative mechanism,medical treatment and preventing for GT patients.Results:Among 25 patients,20 were classified as type Ⅰ,2 as type Ⅱ and 3 as variant GT patients.6 different kinds of molecular defects of platelet GP Ⅱb,Ⅲa genes were identified,which included missense mutation,non sense mutation,splice site mutation and deletion of small fragment DNA.Conclusion:There was no correlation between the type of molecular defect and the severity of hemorrhage.

关 键 词：血小板无力症 临床表现 病理 

分 类 号：R558[医药卫生—血液循环系统疾病]