Abstract: Objective　To evaluate the clinical features and gene mutations of chronic granulomatous disease（CGD）. Methods　The clinical data of 8 CGD patients diagnosed from January 2015 to June 2018 at Children’s Hospital Affiliated to Zhengzhou University were analyzed retrospectively. A range of evaluation indexes were included，such as clinical manifestation，neutrophil respiratory burst assay，gene sequencing，treatment and prognosis. Results　The average age of disease onset and diagnosis was 17 days and 44 days， respectively， including 7 male and 1 female cases. All patients had fever at early stage， which presented with pneumonia（n＝8）； abnormal reaction after Bacillus Calmette-Gurein（BCG） vaccination occurred in 3 cases；recurrent diarrhea， hemafecia and anal fistula occurred in 1 case；perianal abscess occurred in 1 case； lymphadenitis occurred in 2 cases and pustular eruption in 2 cases. Pathogenic examination showed that there were 4 cases of mycobacterium infecton（50.0%）， including 3 cases of BCG infection and 1 case of Mycobacterium tuberculosis infection；staphylococcus aureus occurred in 1 cases（12.5%）；aspergillus fumigatus occurred in 1 case（12.5%）； aspergillusfumigatus and Candida albicans occurred in 1 case（12.5%）and burkholderia in 1 case（12.5%）. The activation rate of neutrophil respiratory burst assay in all cases was less than 20%. The type of gene mutation in seven cases was identified， including 6 males with X-linked gene mutation and 1 female with NCF2 gene mutation. Three cases died and 5 cases survived. Conclusion　CGD has the characteristics of early onset and high mortality and the pulmonary infection is most common. The abnormal reaction after BCG inoculation displays important implications for the diagnosis of CGD. Neutrophil respiratory burst assay and gene sequencing are helpful for early diagnosis.

Key words: granulomatous disease, chronic, child, DNA mutational analysis

摘要： 目的　探讨慢性肉芽肿病的临床特征及基因突变特点。方法　回顾性分析2015年1月至2018年6月在郑州大学附属儿童医院确诊的8例慢性肉芽肿病患儿的临床资料，包括临床表现、 中性粒细胞呼吸爆发试验、基因测序、 治疗及预后。结果　男性7例，女性1例，中位起病年龄和中位诊断年龄分别为17 d和44 d。全部病例病初均有发热症状。肺炎8例，卡介苗接种后异常反应3例； 反复腹泻、 血便合并肛瘘者1例； 肛周脓肿1例； 化脓性淋巴结炎2例； 皮肤脓疱疹2例。病原学结果： 分枝杆菌4例（50%），其中包括3例卡介苗感染，1例结核分枝杆菌感染； 金黄色葡萄球菌1例（12.5%）； 烟曲霉菌1例（12.5%）； 烟曲霉菌合并白色念珠菌1例（12.5%）； 洋葱伯克霍尔德菌1例（12.5%）。全部病例中性粒细胞呼吸爆发试验活化率均＜20%。7例患儿明确基因突变类型，其中6例男性患儿CYBB基因突变，1例女性患儿NCF2基因突变。3例死亡，5例存活。结论　慢性肉芽肿病起病早，病死率高，肺部感染最常见，卡介苗接种后异常反应对慢性肉芽肿病诊断具有重要提示意义。中性粒细胞呼吸爆发试验及基因测序有助于早期诊断。

关键词: 肉芽肿病, 慢性, 儿童, DNA突变分析