儿童慢性肉芽肿病1例临床特征及基因突变分析

目的探讨慢性肉芽肿病的致病机制以及诊断。方法回顾性分析1例慢性肉芽肿病患儿的临床特征及实验室检查;提取患儿及父母外周血基因组DNA,用Agilent Sure Select方法外显子捕获,Illumina测序平台进行高通量测序。结果患儿有反复感染史,伴肝脏肿大和肝功能异常,抗感染及对症治疗效果不佳。二代测序显示患儿CYBA基因存在c.7C??T(p.Gln3*)纯合突变,其母为该位点杂合,父亲可能存在大片段杂合缺失,其他候选基因测序分析未发现明显异常。结论确诊患儿为慢性肉芽肿病,CYBA基因突变是其致病原因。

The analysis of clinical manifestations and genetic mutations in childhood chronic granulomatous disease

Objective To explore the pathogenesis and diagnosis of chronic granulomatous disease. Methods Clinical features and laboratory examination results of a child with chronic granulomatous disease were retrospectively analyzed. Genome DNA was extracted from peripheral blood of the child and his parents. The high-throughput sequencing was performed by Illumina sequencing platform, using the Agilent SureSelect exome capture method. Results The child had recurrent infections along with liver enlargement and dysfunction. The anti-infection and symptomatic treatment were unsatisfactory. Gene sequencing analysis revealed a homozygous point mutation (c.7C?>?T, p.Gln3*) in CYBA gene. His mother had the same heterozygous mutation in this locus, and his father had a large fragment heterozygous deletions. No other candidate gene mutations were identiifed. Conclusions The diagnosis of chronic granulomatous disease is conifrmed in this child. It is caused by CYBA gene mutation.