儿童慢性肉芽肿病研究进展

Study progress of chronic granulomatous disease in children

慢性肉芽肿病是一种罕见的X-连锁或常染色体遗传的原发性免疫缺陷病,属于单基因遗传病,主要表现为反复感染、炎症反应性失调所致肉芽肿形成及其他炎症性疾病等,检测中性粒细胞呼吸爆发功能可筛查本病,基因序列分析可明确致病基因。现综述基因治疗的最新研究,同时总结慢性肉芽肿病的临床表现、诊断、常规治疗及造血干细胞移植方法,以加强临床医师对慢性肉芽肿病的认识。

Chronic granulomatous disease(CGD)is a rare primary immunodeficiency disease with X-linked or autosomal pattern of inheritance,which belongs to monogenic disorders,mainly manifested in repeated infection,granuloma formation caused by inflammatory response disorder and other inflammatory diseases.Detection of neutrophil respiratory burst function can screen the disease,and gene sequence analysis can identify the pathogenic genes.Now,the latest research on gene therapy was updated,and the clinical manifestations,diagnosis,routine treatment and hemato-poietic stem cell transplantation(HSCT)were summarized in order to strengthen the clinicians′understanding of CGD.