成人CYBB基因异常慢性肉芽肿病1例  

A case report of chronic granulomatous disease with CYBB gene mutation in an adult

作　　者：莫华恒 梁勋斯 刘丽华[1] 叶柳镅 蔡双启[1] 罗劲[1] 孔晋亮[1] 王可[1] Mo Huaheng;Liang Xunsi;Liu Lihua;Ye Liumei;Cai Shuangqi;Luo Jin;Kong Jinliang;Wang Ke(Department of Pulmonary and Critical Care Medicine,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China;Department of Thoracic Surgery,Guangxi Chest Hospital,Liuzhou 545005,China)

机构地区：[1]广西医科大学第一附属医院呼吸与危重医学科,南宁530021 [2]广西柳州龙潭医院胸外科,柳州545005

出　　处：《中华结核和呼吸杂志》2023年第5期493-497,共5页Chinese Journal of Tuberculosis and Respiratory Diseases

基　　金：国家自然科学基金(82260023,81760024,82160783,81760743,82104499);广西自然科学基金(2022GXNSFAA035646);广西科技厅重点研发计划项目(桂科AB21196010);广西医疗卫生适宜技术开发与推广应用项目(S2019090)。

摘　　要：患者男性,28岁,入院前4年反复发热、咳嗽、咳痰,多次胸部CT检查提示实变为主,伴渗出、少量胸腔积液,每次治疗后病灶明显吸收,但半年内类似症状再发,胸部CT出现新的实变,每年于外院以肺结核、肺部感染住院诊疗2~3次,接受抗结核、抗感染等对症支持治疗后,上述症状能够缓解,但仍反复,最终通过全基因组测序,发现该患者位于X染色体上的CYBB发生IVS7/DC7位点突变,明确诊断为慢性肉芽肿病。We reported a 28-year-old male patient who had been admitted to a local hospital for several times in the past four years because of recurrent fever and cough.Each chest CT scan during hospitalization showed consolidation accompanied by exudation and mild pleural effusion.After treatment,the consolidation apparently absorbed,but similar symptoms recurred within half a year,and the new consolidation appeared.For this reason,he was diagnosed with tuberculosis or bacterial pneumonia several times in other hospitals,and was hospitalized two to three times a year.Finally,he was diagnosed with chronic granulomatous disease(CGD)with CYBB gene mutation through whole-exome sequencing.

关 键 词：慢性肉芽肿病 基因异常 住院诊疗 胸部CT 位点突变 全基因组测序 咳痰 肺部感染 

分 类 号：R596[医药卫生—内科学]