儿童X-锁慢性肉芽肿病反复肺部感染3例分析  

Recurrent pulmonary infections in pediatric patients with X-linked recessive chronic granulomatous disease:analysis of 3 cases.

作　　者：贺建新[1] 赵顺英[1] 江载芳[1] 

机构地区：[1]北京儿童医院呼吸科,北京100045

出　　处：《中国实用儿科杂志》2008年第8期605-608,共4页Chinese Journal of Practical Pediatrics

摘　　要：目的报告3例明确基因诊断的X-连锁隐性慢性肉芽肿病(XLR-CGD),分析临床表现,总结特点,指导临床诊疗工作。方法对2004年以来北京儿童医院临床怀疑诊断的3例CGD患儿,PCR扩增基因组CYBB基因,扩增产物直接测序,患儿母亲(姐姐及外祖母)亦包括在本研究内。总结分析3例XLR-CGD患儿的住院临床资料及随访情况。结果患儿感染表现以肺部感染为主,肺部感染呈反复性,影像学表现不典型,可合并肛周、脾、中枢神经系统感染。查到的病原1例肺组织培养为曲霉菌,1例痰培养为白色念珠菌,根据抗分枝杆菌治疗效果1例考虑为分枝杆菌感染。结论3例XLR-CGD患儿均以反复肺内感染为主要表现,真菌感染是需特别关注的问题,与分枝杆菌感染的鉴别仍有一定困难。Objective To investigated three male patients diagnosed with X-linked CGD through CYBB gene analysis and to analyze the clinical manifestations, summarizing the features and guiding the diagnosis and treatment. Methods The mother or sister or maternal grandmother were included in the study. Granulocytes were isolated from blood samples after informed consent. The 13 exons of CYBB with their adjacent intronic sequences were amplified with the appropriate primer combinations. PCR products were sequenced directly and mutations were observed. The records of patients and follow-up were reviewed. Results Recurrent pulmonary infections were the main characteristic with atypical infiltrates,oc- casionally complicated with perirectal abscess or bacteremia/fungemia or central nervous system infection. One pathogen was aspergillosis by lung specimen culture ,and one was candida albicans by sputum culture, one was mycobacteria accord- ing to anti-mycobacteria treatment effect. Conclusion The main presentation in 3 pediatric patients with X-linked chronic granulomatous disease is recurrent pulmanory infections. Special attention should be paid to fungi infection. There are still some difficulties in differentiation between pulmonary fungi and mycobacteria infections.

关 键 词：肺部感染 X-连锁慢性肉芽肿病 原发性免疫缺陷病 真菌 分枝杆菌 

分 类 号：R72[医药卫生—儿科]