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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 report 3 cases of X-linked recessive chronic granulomatosis (XLR-CGD) with definite gene diagnosis, analyze the clinical manifestations, summarize the characteristics and guide clinical diagnosis and treatment. Methods CYBB gene was amplified by PCR from 3 cases of CGD in Beijing Children’s Hospital. The PCR products were directly sequenced and the mothers (sisters and grandmothers) were also included in this study. The clinical data and follow-up of 3 cases of XLR-CGD children were summarized and analyzed. Results The infection in children was mainly pulmonary infection. The pulmonary infection was recurrent. The imaging findings were not typical. Perianal, splenic and central nervous system infections could be combined. One case of pathogen was found to be aspergillus culture in lung tissue and one case of Candida albicans in sputum culture. One case of mycobacterium infection was considered mycobacterial infection. Conclusions Three cases of children with XLR-CGD are characterized by repeated intra-pulmonary infection. Fungal infection is a special issue requiring attention. Identification of mycobacterial infection is still difficult.