新生儿慢性肉芽肿病1例报告及其临床、功能和基因分析

Clinical,function and genetic analysis of neonatal chronic granulomatous disease:one case report

新生儿慢性肉芽肿病(chronic granulomatous disease,CGD)临床报道较少,早期诊断对治疗及预后有重要价值。本文报告1例新生儿期起病的CGD,临床表现为对抗生素等常规治疗反应欠佳的严重感染,胸部CT可见多发结节,中性粒细胞呼吸爆发功能异常,gp91蛋白不表达,高度怀疑CGD。基因分析显示CYBB基因有一个错义突变c.665(exon6)A>G(p.H222P),突变来源于母亲。本例患者确诊CGD后,经抗真菌治疗后好转,等待造血干细胞移植。

There were few reports about neonatal chronic granulomatous disease(CGD).Early diagnosis of CGD is of great value for treatment and prognosis.In this case,the onset of the disease was in neonatal period.In addition to sever infection that with no response to conventional treatments such as antibiotics,multiple nodules were visible in CT images of the lung.Respiratory burst function test of neutrophils showed abnormal,and the expression of gp91 was lost.CGD was highly suspected.CYBB gene analysis showed maternal missense mutation,c.665(exon6)A>G(p.H222P).After diagnosis of CGD,the neonate improved with antifungal therapy and waited for transplantation of hemopoietic stem cells.