NCF2基因突变致儿童慢性肉芽肿病临床特点分析

Clinical characteristics and gene mutation analysis of chronic granulomatous disease caused by NCF2 in children

目的探讨NCF2基因突变所致儿童慢性肉芽肿的临床特点并基因分析。方法回顾分析1例因肺内多发结节影而被发现的慢性肉芽肿患儿的临床资料及基因检测结果,并复习相关文献。结果患儿,女,生后20天因呼吸道感染症状行胸部CT检查发现双肺多发类圆形结节影,中性粒细胞活化刺激试验显示未见刺激活化细胞。基因测序显示NCF2基因纯合突变,c.233G>A;p.(Gly78Glu)。确诊为儿童慢性肉芽肿病。结论对于无明显诱因出现反复感染、肺部多发结节,但免疫球蛋白水平及淋巴细胞亚群无异常的患儿应考虑慢性肉芽肿可能,中性粒细胞活化刺激试验有助于诊断,最终诊断依靠基因检测。

Objective To explore the clinical characteristics and gene analysis of chronic granuloma caused by NCF2 gene mutation in children.Method The clinical data and gene detection results of one child who was diagnosed with chronic granulomatosis due to multiple nodules in the lungs were analyzed retrospectively,and the related literature were reviewed.Results The female baby was found to have multiple round nodules in her lungs by chest CT due to respiratory infection symptoms 20 days after birth.Neutrophil activation and stimulation test showed no activation of granulocyte.Gene sequencing showed homozygous mutation of NCF2 gene,c.233G>A;p.(Gly78Glu).And the diagnosis of chronic granulomatosis was made.Conclusion For children who had recurrent infection and multiple pulmonary nodules without obvious inducements,and normal levels of immunoglobulin and lymphocyte subsets,chronic granuloma should be considered.Neutrophil activation and stimulation test is helpful for diagnosis,and the final diagnosis depends on gene detection.