湿疹-血小板减少伴免疫缺陷综合征临床特征及危险因素分析

Clinical characteristics and risk factors of deaths in patients with Wiskott-Aldrich syndrome

目的探讨湿疹-血小板减少伴免疫缺陷综合征(WAS)的临床特征和危险因素。方法病例对照研究,选择2007年1月至2020年8月在重庆医科大学附属儿童医院风湿免疫科就诊的165例WAS患儿为研究对象,根据预后的存活情况分为死亡组和存活组(对照组),比较两组患儿的一般情况、临床表现、实验室检查、治疗及预后等临床资料,组间比较采用两独立样本t检验、Welch法近似t检验、Mann-Whitney U检验、Pearson χ^(2)检验、Yates校正χ^(2)检验或Fisher确切概率检验,死亡危险因素分析采用多因素Logistic回归方法分析。结果165例WAS患儿均为男性,其中死亡组患儿40例,死亡年龄为19(9,28)月龄,存活组125例,末次随访年龄为60(36,86)月龄。死亡组患儿WAS评分为(4.1±0.8)分,存活组为(3.1±1.2)分。死亡组患儿反复感染和(或)重症感染、颅内出血、湿疹发生比例均显著高于存活组[95.0%(38/40)比32.0%(40/125)、25.0%(10/40)比2.4%(3/125)、90.0%(36/40)比72.0%(90/125),χ^(2)=48.253、18.325、5.440,均P<0.05]。感染(22例,55.0%)、出血(15例,37.5%)是主要死亡原因,另外3例(7.5%)患儿因移植后发生严重的移植物抗宿主病而死亡。Logistic回归分析提示反复感染和(或)重症感染及未使用静脉注射免疫球蛋白(IVIG)支持治疗是WAS患儿死亡的危险因素(OR=8.999、2.860,95%CI:2.041~39.667、1.375~5.950,均P<0.05)。结论反复感染和(或)重症感染是WAS患儿的主要死亡危险因素,规律IVIG治疗可提高WAS患儿生存率。

Objective To explore the clinical characteristics and risk factors of pediatric patients with Wiskott-Aldrich syndrome(WAS).Methods This was a case-control study.Clinical data of 165 cases of pediatric patients with WAS,who visited the Department of Rheumatology,Children′s Hospital of Chongqing Medical University between January 2007 and August 2020 were retrospectively analyzed and divided into death group and survival group(control group)according to the prognosis in the follow-up.Two independent samples t-test,Welch approximate t-test,Mann-Whitney U test,Pearson χ^(2) test,Yates corrected χ^(2) test,or Fisher exact probability test were used for comparison between groups.Risk factors were analyzed by multivariate Logistic regression analysis.Results A total of 165 patients with Wiskott-Aldrich syndrome were enrolled in this study,including 40 cases in the death group and 125 cases in the survival group.The WAS score was(4.1±0.8)score in the death group and(3.1±1.2)score in the survival group.The age was 19(9,28)months in the death group and 60(36,86)in the survival group.The episode rates of recurrent infection and(or)severe infection,intracranial hemorrhage and eczema in the death group were significantly higher than those in the survival group(95.0%(38/40)vs.32.0%(40/125),25.0%(10/40)vs.2.4%(3/125),90.0%(36/40)vs.72.0%(90/125),χ^(2)=48.253,18.325,5.440,all P<0.05).Infection(22 cases,55.0%)and intracerebral hemorrhage(15 cases,37.5%)were the main causes of death,3 cases(7.5%)died of severe graft-versus-host disease after transplantation.The Logistic regression model indicated that repeated infection and(or)severe infection and non-use of intravenous immunoglobulin(IVIG)replacement therapy were risk factors for death in Chinese WAS patients(OR values were 8.999 and 2.860,95%CI were(2.041-39.667)and(1.375-5.950),respectively,all P<0.05).Conclusions Recurrent and(or)severe infection is the main risk factor of death for WAS patietns.Regular IVIG treatment can improve the survival rate of patients with WAS.