【摘要】 目的分析7例Wiskott-Aldrich综合征患儿的临床特征。方法对2010—2019年于河北医科大学第二医院就诊的Wiskott-Aldrich综合征患儿的临床资料进行回顾性分析。结果 7例患儿均为男性,2例为同一家系,基因检测6例突变位于外显子(5例为错义突变,1例为缺失突变),1例突变位于内含子,属于剪接位点突变,5例患儿进行亲代验证,母亲均为杂合突变。首发症状均为出血,皮肤出血点4例,便血3例;7例中有3例伴有严重的湿疹;最常见表现为上呼吸道感染或支气管炎,重度感染共计12例次,其中细菌感染7例次(58%),病毒感染2例次(17%),真菌2例次(17%),结核1例次(8%); 3例淋巴细胞亚群分析均表现为CD3+T细胞比例减低,主要为CD3+CD8+细胞比例减低,CD3-CD56+细胞比例增加,可伴或不伴B细胞比例异常。结论 1.该病为X-连锁隐性遗传,男性发病,突变以错义突变为主; 2.临床上主要表现为出血,湿疹伴感染;3.免疫状态存在异质性。更多还原

【Abstract】 Objective To analyze the clinical characteristics of 7 children patients with WiskottAldrich syndrome. Methods Retrospective analysis the clinical data of patients with Wiskott-Aldrich syndrome from 2010 to 2019 in the Second Hospital of HeBei Medical University. Results All 7 patients were male,2 of them were from the same family,6 had mutations in exons( 5 had missense mutations,1 had deletion mutation),1 had mutations in intron,i. e. splicing site mutation. 5 had parental verification,and all the mothers had heterozygous mutations. All the initial symptoms were bleeding,including 4 cases of skin bleeding points and 3 cases of hematochezia. 3 of the 7 had severe eczema. The most common manifestation was upper respiratory infection or bronchitis. There were 12 cases of severe infection in total,including 7 cases of bacterial infection( 58%),2 cases of viral infection( 17%),2 cases of fungal infection( 17%),and 1 case of tuberculosis( 8%). 3 cases of the lymphocyte subgroup analysis showed that the proportion of CD3 + T cells decrease,mainly including the proportion of CD3 + CD8 + cells decrease,and the proportion of CD3-CD56 + cells increase,with or without the abnormal proportion of B cells. Conclusions 1. The disease is x-linked recessive hereditary disease in male,and mutation is mainly missense mutation. 2. The main clinical manifestations are hemorrhage,eczema with infection. 3.Heterogeneity exists in immune status.更多还原