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慢性肉芽肿病(CGD)为先天性吞噬细胞功能缺陷的典型疾病,由于基因突变引起吞噬细胞呼吸爆发功能障碍,不能杀伤过氧化物酶阳性细菌和真菌,以反复严重细菌、真菌感染及肉芽肿形成为临床特点。四氮唑蓝试验及二羟罗丹明123试验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,并在检测携带者及产前诊断中起重要作用。早期诊断、抗生素预防和治疗感染,改善了多数CGD患者的预后。
Chronic granulomatous disease (CGD) is a typical disease of congenital phagocyte dysfunction. Due to gene mutation, phagocyte respiratory burst dysfunction, can not kill peroxidase positive bacteria and fungi, in order to repeatedly severe bacterial, fungal infection and granuloma Formed as a clinical feature. Tetrazolium blue test and dihydroxyrhodamine 123 test measured neutrophil respiratory burst function of the disease screening, gene sequence analysis can be clear pathogenic genes, and in the detection of carriers and prenatal diagnosis plays an important role. Early diagnosis, antibiotic prophylaxis and treatment of infections have improved the prognosis of most CGD patients.
