儿童原发免疫缺陷病110例临床特点及基因诊断  

Clinical features and genetic analysis in 110 children with primary immunodeficiency

作　　者：陈香元[1,2] 曾华松[1,2] 韦茹[1,2] 曾萍[1,2] 崔咏望[1,2] 李丰[1,2] 

机构地区：[1]广东省广州市妇女儿童医疗中心 [2]广州市儿童医院过敏免疫风湿科,510120

出　　处：《广东医学》2010年第1期28-31,共4页Guangdong Medical Journal

基　　金：国家人事部留学归国人员启动基金(编号:200499);广东省自然科学基金(编号:9151026003000004);广州市科技局科技攻关重大项目(编号:2003Z2-E0181);广州市科技局科技攻关一般引导项目(编号:2005Z1-E0104);广州市卫生局重点项目(编号:2005-ZDi-08)

摘　　要：目的分析儿童原发性免疫缺陷病（primary immunode6ciency，PID）的临床特点及基因诊断现状，提高儿科医师对该类疾病的认识。方法回顾性分析110例PID患儿的临床资料及基因诊断结果。结果110例患儿中男女比例为90：20，发病年龄为0～119个月，诊断年龄为2～156个月。PID患儿以发热、反复上呼吸道及下呼吸道感染、腹泻等为主要表现。有明确家族史的占16．36％。以抗体缺陷最多，为42例（38．18％），其次为联合缺陷性疾病，为38例（34．55％）。1999--2004年诊断PID16例，2004--2009年诊断94例，明确的基因诊断为17例，临床诊断与基因诊断比例为93：17。住院死亡PID患儿12例（10．91％），2例患儿放弃治疗后死亡，总病死率为12．73％。PID患儿与总住院人数的比例为110：20万。结论PID危及患儿生命，严重影响了患儿生活质量，应进行早期诊断、早期治疗、早期干预。Objective To analyze the clinical features and genetic diagnosis of 110 cases of primary immunodefi- ciency （PID）. Methods Retrospective analysis was performed to analyze the the medical records of PID patients hospi- talized in Guangzhou Women and Children＇s Medical Center between 1999 and 2009. Results Between 2004 and 2009, 85. 5% （94/110） of PID were diagnosed and only 14. 5% （16/110） were diagnosed before 2004, with only 15.5% （17/110） of cases having genetic diagnosis. The ratio of male to female was 9：2. The majority of PID was humoral immu- nodeficieney, including 71.43% （30/42） of cases with agammaglobulinemia, 14. 29% （ 6/42 ） of cases with hypogam- maglobulinemia, 11.90% （5/42） of cases with selective IgA deficiency, and 2. 38% （1/42） of cases with CD19 defi- ciency. There were 34. 55% （38/110） of cases with combined immunodefieiency, including two cases with Hyper - IgM syndrome, 12. 73% （14/110） of cases with diseases of immune dysregulaton, 0. 91% （1/110） with WAS, 1.82% （ 2/ 110） with CGD, and 3.64% （4/110） cases with Hyper - IgE syndrome. There were 16. 36% （18/110） cases with posi- tive family history, 85.45% （94/110） cases with fever, 88. 18% （97/110） with upper respiratory tract and sinusitis in- fection, 68. 18% （75/110） with lower respiratory tract infection, 51.82% （57/110） with diarrhea, 34. 55% （38/110） with malnutrition. 10. 91% （12/110） died in hospital and two patient died at home. The ratio of PID patients to inhospital patients was 110：200 000. Genetic diagnosis found CYBB mutation in 2 CGD cases, CIMOL mutation in 2 HIGM cases, IL2RG mutation in 5 combined immunodeficiency cases, BTK mutation in 6 XLA cases. SATA3 mutation in 2 cases with hyper - IgE syndrome. There was still no cure for the disease. Conclusion PID is a group of life - threatening dieases with a high mortality. With the development of medical science, the diagnosis and treatment of PID have been greatly im- proved. Additional studie

关 键 词：儿童 原发性免疫缺陷病 基因 

分 类 号：R394[医药卫生—医学遗传学] R593.31[医药卫生—基础医学]