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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。
Objective To analyze the clinical manifestation and diagnosis of childhood idiopathic immunodeficiency disease (PID) and to enhance pediatricians’ understanding of the disease. Methods The clinical data of 135 children with PID who were diagnosed from May 1993 to December 2007 in Children’s Hospital of Chongqing Medical University were retrospectively analyzed, including symptom and signs, gender, age at onset, family history, immunological results and diagnosis . Results Among the 135 children, antibody deficiency accounted for 34.8%, phagocyte defects accounted for 18.5%, other definite immunodeficiency syndromes accounted for 14.8%, combined immunodeficiency accounted for 11.9%, immune disorders accounted for 5.9%, complement defects Accounting for 0.7%, other PID accounted for 13.3%. The ratio of male to female was 110:25, the ratio of clinical diagnosis to genetic diagnosis was 98: 37.9 cases were diagnosed in 1993-1996, 23 cases were diagnosed in 1997-2000, 31 cases were diagnosed in 2001-2003, 72 cases were diagnosed in 2004-2007, The number of diagnosis increased year by year. Among them, 7 were diagnosed in 2001-2003 and 30 were diagnosed in 2004-2007. Conclusions PID is a group of genetic diseases mainly found in infants and young children, which is an important cause of repeated, serious, disabling and fatal infections in children. The number of PID cases diagnosed in recent years has been increasing year by year. Gene analysis is an important means of diagnosing these diseases.