CYBA突变所致儿童常染色体隐性遗传性慢性肉芽肿病二例临床特点和突变分析  

Clinical features and molecular analysis of 2 Chinese children with autosomal recessive chronic granulomatous disease caused by CYBA mutations

作　　者：贺建新[1] 赵顺英[2] 徐保平[2] 胡英惠[2] 申昆玲[2] 江载芳[2] 

机构地区：[1]首都医科大学附属北京儿童医院儿研所呼吸功能室,100045 [2]首都医科大学附属北京儿童医院呼吸内科,100045

出　　处：《中华儿科杂志》2011年第11期853-857,共5页Chinese Journal of Pediatrics

摘　　要：目的报道2例由细胞色素b，α亚单位（CYBA）突变所致常染色体隐性遗传性慢性肉芽肿病（A22CGD）患儿的临床表现及基因突变特点。方法针对经DHR123流式细胞分析和CYBA基因突变分析明确诊断的2例A22CGD患儿，回顾其临床资料，总结与感染及炎症并发症相关的临床特点。结果例1，女，2岁11个月，以肝脾脓肿入院，既往有新生儿脓疱疹，反复化脓性淋巴结炎病史。有2例同胞兄长生后早期高热天折病史。DHR123流式细胞分析结果示佛波酯（PMA）刺激后阳性吞噬细胞为84．61％。CYBA基因突变分析为杂合的35T〉C，Q3X及IVS-2A〉G。例2，男，4岁1个月，以败血症（沙门菌D）入院，既往有肺炎，败血症，肛周脓肿和皮肤感染病史。有1例同胞姐姐婴儿早期不明原因天折病史。DHR123流式细胞分析结果示PMA刺激后阳性吞噬细胞数为96．13％。CYBA基因突变分析为纯合的35T〉C，Q3X，父母均为携带者。2例患儿均有卡介苗接种相关的腋下淋巴结钙化。结论A22CGD患儿具有反复化脓性感染（肝脾，皮肤，淋巴结，血流，肺，肛周）病史，DHR123流式细胞分析结果显示PMA刺激后阳性吞噬细胞数百分比可减低，CYBA突变分析结果分别显示杂合的外显子1的无义突变同时伴内含子1的致病性拼接区突变及外显子1的纯合突变。Objective To summarize clinical and molecular features of two children with autosomal recessive chronic granulomatous disease caused by CYBA mutations. Method The clinical records and CYBA mutations were reviewed for analysis of infections and inflammatory complications. Result The first case was a girl diagnosed with ＂liver and spleen abscess＂ in our hospital when she was 2. 9 years old, with past history of neonatal impetigo and recurrent purulent lymphadenitis and positive family history. The results of DHR123 flow-cytometry showed that positive phagocytes after phorbol ester （PMA） stimulation was 84. 63%. CYBA mutation analysis showed that she had heterozygous 35C 〉 T, Q3X and IVS-2A 〉 G. The second case was a boy diagnosed with＂ sepsis （ salmonella D） ＂ when he was 4 years old with a past history of impetigo, sepsis, perianal abscess, skin infection and positive family history. The results of flowcytometry showed that positive phagocytes after PMA stimulation was 96. 13%. CYBA mutation analysis showed that he had homozygous 35C 〉 T, Q3X and his parents were all carriers. All of them had BCG related axillary lymphnode calcification. Conclusion A22CGD cases had recurrent purulent infections （skin, lymphnode, liver and spleen, lung, blood）, DHR123 flowcytometric analysis helped the diagnosis of CGD, CYBA mutation analysis ascertained the diagnosis of A22CGD.

关 键 词：肉芽肿病 慢性 儿童 

分 类 号：R72[医药卫生—儿科]