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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 investigate the clinical features and treatment strategies in children with Wiskott-Aldrich syndrome (WAS). Methods The clinical manifestations of 6 WAS children who were treated in Tianjin Children’s Hospital from 2000 to 2006 were evaluated by clinical phenotype. Blood routine, immunoglobulin levels and bone marrow routine examination were performed on children. Flow cytometry T, B lymphocyte ratio was detected. Results Six children were all typical WAS, except 1 patient rated 3 points, the other 5 patients were rated 4 points. 6 cases of family history of patients were negative. Blood tests showed a decrease in mean platelet volume (MPV) and approximately normal immunoglobulin levels, but flow cytometry showed elevated or decreased CD4 + / CD8 +. Adrenal glucocorticoid treatment ineffective, high-dose intravenous gamma globulin impact may have a short-term effect, some children need infusion of platelets for replacement therapy. Conclusions For boys with recurrent thrombocytopenia, eczema and infections shortly after birth, attention should be paid to the possibility of WAS. Such children should be carefully asked family history, pay attention to the detection of MPV value, and actively control the infection, the application of high doses of intravenous gamma globulin for impact treatment for children with stem cell transplantation in the future to create opportunities.