慢性肉芽肿病27例临床分析

摘要

Objective To evaluate the clinical features and treatment of chronic granulomatous disease (CGD ) . Methods A total of 27 CGD patients diagnosed by neutrophil respiratory burst in Zhengzhou Children Hospital from January 2007 to June 2017 were selected .The clinical ,pathogenic and radiological characteristics were retrospectively analyzed ,and the treatment and prognosis were evaluated . Chi-square test was used for statistical analysis .Results Among the 27 cases ,all patients presented with pulmonary infection (27/27) and 55 .6％ had cutaneous infection (15/27) .Lymph node enlargement was presented in 48 .1％ (13/27) of patients .Eleven neonates and four infants had cutaneous infection ,which showed significant difference (χ2= 11 .408 , P < 0 .05 ) . The results of pathogenic detection revealed 66 .7％ (18/27) fungal infection ,25 .9％ (7/27) bacterial infection and 44 .4％ (12/27) mycobacterial infection .The incidence rate of fungal infection in neonates was significant higher than that of children (χ2 = 6 .075 , P < 0 .05) .Radiologic examination showed that 12 cases had calcification of subaxillary lymph nodes ,4 cases had pneumonia and thick-walled cavity ,13 cases had multiple nodules ,5 cases had massive high-density shadow and 4 cases had pulmonary abscess .The clinical pathogenic and radiologic features were similar between neonates and children .Treatment options included long-term combination therapy of bactericidal and fungicidal medicines .Conclusions Clinical manifestations of CGD are mainly pulmonary infection as well as cutaneous infection . Combination therapy with multiple medicines is effective .Hematopoietic stem cell transplatation plus retroviral vectors genetic therapy may be the trend of CGD treatment in the future .%目的 探讨慢性肉芽肿病的临床特点和治疗方法 .方法选择2007年1月至2017年6月郑州大学附属儿童医院经中性粒细胞呼吸暴发试验诊断为慢性肉芽肿病的患儿27例,采用回顾性队列分析患儿的临床特征 、病原菌和影像学特点,评估患儿临床预后.统计学处理采用卡方检验.结果27例慢性肉芽肿病患儿临床表现主要累及肺部与皮肤,其中肺部感染27例,皮肤感染15例,淋巴结肿大13例.皮肤感染新生儿11例,婴儿4例,差异有统计学意义(χ2=11.408,P<0.05).27例患儿中,真菌感染18例,细菌感染7例,分枝杆菌感染12例.新生儿真菌感染11例,婴儿7例,差异有统计学意义(χ=6.075,P<0.05).影像学结果显示,腋下淋巴结钙化影12例,肺炎+厚壁空洞4例,多发结节影13例,团块状高密度影5例,肺脓肿4例.新生儿慢性肉芽肿病的临床特征与婴儿相似.治疗多采取抗细菌感染与抗真菌感染联合方案.结论 慢性肉芽肿病患儿临床表现以肺部感染与皮肤感染为主 ,多种药物联合治疗有效 ,造血干细胞移植联合反转录病毒载体基因可能是未来慢性肉芽肿病的治疗方向 .