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目的 分析儿童原发性免疫缺陷病(PID)的临床发病及诊断情况,增强儿科医师对该类疾病的认识.方法 回顾性分析重庆医科大学附属儿童医院1993年5月至2007年12月诊断的135例PID患儿的临床资料,包括发病时症状体征、性别、发病年龄、家族史、免疫学结果 及诊断情况.结果 135例患儿中以抗体缺陷最多,占34.8%.吞噬细胞缺陷占18.5%,其他明确的免疫缺陷综合征占14.8%,联合免疫缺陷占11.9%,免疫失调性疾病占5.9%,补体缺陷占0.7%,其他PID占13.3%.男女比例为110:25,临床诊断与基因诊断比例为98:37.1993-1996年诊断9例,1997-2000年诊断23例,2001-2003年诊断31例,2004-2007年诊断72例,诊断病例数逐年增加.其中2001-2003年基因诊断7例,2004-2007年基因诊断30例.结论 PID为一组主要见于婴幼儿的遗传病,是引起儿童反复、严重、致残、致死性感染的重要原因.近年来诊断的PID病例数逐年增加,基因分析是确诊该类疾病的重要手段.

Clinical investigation of 135 primary immunodeficiency disorders in children.

??Objective??To analyze the occurrence and diagnosis of the primary immunodeficiency disorders in children??and to promote the pediatrician to understand more about these disorders. Methods??Overview the clinical data of the 135 children with primary immunodeficiency disorders diagnosed in our hospital from May 1993 to December 2007??including the symptom??physical sign??age of onset??family history and results of immunologic test. Results??In the 135 children with primary immunodeficiency disorders??antibody deficiencies were the most frequent ??34. 8%????followed by phagocyte deficiencies??18.5%????other well defined immunodeficiency syndromes??14.8%????combined T- and B-cell immunodeficiencies ??11.9%????disease of immune dysregulation ??5.9%????complement deficiencies ??0.7%?? and other primary immunodeficiencies ??13.3%??. The ratio of boys to girls was 110 to 25?? and clinical diagnosis to genetically diagnosis was 98 to 37. Nine cases were diagnosed in 1993 to 1996??23 cases in 1997 to 2000??31 cases in 2001 to 2003 and 7 cases were genetically diagnosed??72 cases in 2004 to 2006 and 30 cases were genetic diagnosed. Conclusion??The primary immunodeficiency disorders are inherited diseases which mainly occur in children. They are the substantial cause of recurrent??severe and deadly infection in children. It seems to be a tendency that the incidence increases with time. Genetic analysis becomes an important diagnostic technique for PID.