Wiskott-Aldrich综合征6例临床分析  

Clinical study of six Wiskott-Aldrich syndrome patients

作　　者：陈森[1] 李静岩[1] 贾万英[1] 姜丽华[1] 张美玉[1] 艾奇[1] 

机构地区：[1]天津市儿童医院,天津300074

出　　处：《中国实用儿科杂志》2007年第12期935-937,共3页Chinese Journal of Practical Pediatrics

摘　　要：目的探讨Wiskott-Aldrich综合征(WAS)患儿的临床特点及治疗策略。方法对2000—2006于天津市儿童医院就诊的6例WAS患儿的临床表现进行临床表型评分,对患儿进行血常规、免疫球蛋白水平和骨髓常规检查,应用流式细胞仪对部分患儿T、B淋巴细胞比例进行检测。结果6例患儿均为典型WAS,除1例评3分外,其余5例均评4分。6例患儿家族史均为阴性。血常规检查显示平均血小板容积(MPV)减小,免疫球蛋白水平大致正常,但流式细胞检测显示,CD4+/CD8+升高或降低。肾上腺糖皮质激素治疗效果欠佳,应用大剂量静脉丙种球蛋白冲击可有短暂疗效,部分患儿需要输注血小板进行替代治疗。结论对出生后不久即有反复罹患血小板减少、湿疹和感染的男婴,应高度注意WAS的可能。对此类患儿应仔细询问家族史,注意MPV值的检测,积极控制感染,应用大剂量静脉丙种球蛋白进行冲击治疗,为患儿将来进行干细胞移植治疗创造机会。Objective To explore the characteristics of the Wiskott-Aldrich syndrome and the therapy method. Methods The clinical data from six WAS patients were analyzed, including blood routine, MPV and bone marrow biopsy. Flow cytometry was used to analyze the CD4 and CDs T subset. Serum immune globulin was also detected. Results All of the patients＇MPV were small than health control. The level of serum immune globulin was normal in onset of disease but CD4/ CD8 was in disorder. High dose IVIG could improve the hemorrhage symptoms. Conclusion ITP patients in the male with small MPV should be suspected WAS,and genetics examination should be made to confirm.

关 键 词：血小板 湿疹 WISKOTT-ALDRICH综合征 

分 类 号：R72[医药卫生—儿科]