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目的了解X-连锁慢性肉芽肿病(X-CGD)患儿的临床特点、治疗方法及基因突变类型。方法选择我科2013年4~12月经基因检测明确诊断为X-CGD的病例,总结患儿起病时间、症状、影像学表现、病原学检查、治疗及转归情况,了解基因突变类型。结果研究期间共收治4例X-CGD患儿,均为男婴,起病日龄13~17天,诊断日龄24~34天,1例有家族史。首发症状发热3例,咳嗽1例。肺CT表现为结节、不规则、球形或类圆形高密度灶。痰培养1例为烟曲霉菌和金黄色葡萄球菌,1例为白色念珠菌,2例阴性;血培养均阴性;血清半乳甘露聚糖(GM)试验阳性3例。应用抗细菌联合抗真菌治疗2~3周,4例均好转出院,随访6个月3例未复发,1例出院后未按医嘱服药生后5个月因反复严重感染死亡。CYBB基因突变分析示缺失突变1例,插入突变1例,错义突变2例,患儿母亲均为携带者。结论本病在新生儿期呼吸道症状及体征相对较轻,但影像学显示肺部病变严重,肺CT表现为多发结节或团块影,常规体液和细胞免疫功能正常的新生儿应考虑X-CGD。CYBB基因突变分布广泛,异质性明显,基因突变分析将成为产前诊断的重要工具。
Objective To investigate the clinical features, treatment and mutation types of children with X-linked chronic granulomatosis (X-CGD). Methods The cases of X-CGD diagnosed by genetic testing from April to December 2013 in our department were selected. The onset time, symptoms, imaging findings, etiological examination, treatment and prognosis of the children were summarized to find out the types of gene mutation. Results A total of 4 X-CGD children were enrolled during the study period, all of whom were male infants. The onset day was 13-17 days, diagnosis day was 24-34 days, and 1 case had family history. The first symptom of fever in 3 cases, cough in 1 case. Pulmonary CT showed nodules, irregular, spherical or round-shaped high-density stove. One case of sputum culture was Aspergillus fumigatus and Staphylococcus aureus, one case was Candida albicans, two cases were negative, all were negative in blood culture, and three cases were positive in serum galactomannan (GM) test. Antibacterial combined with antifungal therapy for 2 to 3 weeks, 4 patients were discharged out of hospital, 6 months follow-up 3 cases did not relapse, 1 case discharged after discharge of medical advice 5 months after the death due to repeated serious infections. CYBB gene mutation analysis showed deletion mutation in 1 case, insertion mutation in 1 case, missense mutation in 2 cases, children with mothers were carriers. Conclusion The disease in the neonatal period, respiratory symptoms and signs are relatively mild, but the imaging showed severe lung disease, pulmonary CT showed multiple nodules or mass shadow, conventional humoral and cellular immune function should be considered normal neonates X- CGD. CYBB gene mutations are widely distributed, heterogeneous obvious, gene mutation analysis will become an important tool for prenatal diagnosis.