儿童慢性肉芽肿病4例临床分析及文献复习  

Chronic granulomatous disease in children:clinical analysis and literature review of 4 cases

作　　者：李甜 褚亚娟 帅金凤[1] 黄坤玲[1] 刘建华[1] 及立立[1] 张卉[1] LI Tian;CHU Yajuan;SHUAI Jinfeng;HUANG Kunling;LIU Jianhua;JI Lili;ZHANG Hui(Second Department of Respiratory Medicine,Hebei Children's Hospital,Shijiazhuang,Hebei 050031,China)

机构地区：[1]河北省儿童医院呼吸二科,河北石家庄050031

出　　处：《安徽医药》2025年第4期737-742,共6页Anhui Medical and Pharmaceutical Journal

基　　金：河北省卫生健康委医学科学研究课题项目(20220040)。

摘　　要：目的提高对儿童慢性肉芽肿病(chronic granulomatous disease,CGD)的认识和诊断能力,减少误诊、漏诊。方法收集2017年12月至2022年2月于河北省儿童医院住院治疗的4例CGD病儿的临床资料,对其基本信息、临床表现、实验室检查、影像学、基因检测、治疗及随访情况进行回顾性分析。结果4例CGD病儿均为男性,确诊年龄2例为2岁、2例为3岁,4例均有反复肺炎表现,皮肤或肛周脓肿2例(50%),反复腹泻3例(75%),脓毒症1例(25%),骨髓炎1例(25%),炎症性肠病1例(25%),口腔溃疡2例(50%),结核感染1例(25%),真菌感染3例(75%),细菌感染4例(100%)。胸部CT提示纵隔及肺门淋巴结肿大3例,纵隔淋巴结钙化1例,肺实变3例,多发结节影1例,多发高密度影及磨玻璃影1例,骨质破坏1例。4例均进行了基因检测,均为CYBB基因突变,母亲均为携带者。对于4例病儿的急性感染,根据病原学检查及药敏结果分别给予抗细菌治疗、抗真菌治疗及抗结核治疗。经治疗,4例病儿均好转出院。结论对于临床上出现反复肺炎(细菌或合并真菌感染)、皮肤软组织感染、结核感染、淋巴结炎、肺部影像学结节性改变的病儿需警惕CGD,行基因测序有助于确诊。Objective To improve the knowledge and diagnostic ability of chronic granulomatous disease(CGD)in children and to reduce misdiagnosis and missed diagnosis.Methods Clinical data of 4 children with CGD admitted to Hebei Children's Hospital from December 2017 to February 2022 were collected.The general information,clinical features,laboratory tests,imaging features,genetic tests,treatment and prognosis were analyzed retrospectively.Results All the 4 CGD children were male,2 cases diagnosed at 2 years old and 2 at 3 years old.All the 4 children had recurrent pneumonia,with skin or perianal abscess in 2 cases(50%),recurrent diarrhea in 3 cases(75%),sepsis in 1 case(25%),osteomyelitis in 1 case(25%),inflammatory bowel disease in 1 case(25%),and oral ulcers in 2 cases(50%),tuberculosis infection in 1 case(25%),fungal infection in 3 cases(75%),and bacterial infection in 4 cases(100%).Chest CT showed calcification of mediastinal lymph nodes in 1 case,enlargement of mediastinal and hilar lymph nodes in 3 cases,lung consolidation in 3 cases,multiple nodules in 1 case,multiple high-density and ground glass shadows in 1 case,and bone destruction in 1 case.All 4 cases were tested for CYBB gene mutation and their mothers were carriers.For 4 cases of acute infection,antibacterial therapy,antifungal therapy and antituberculous therapy were given according to etiological examination and drug sensitivity results.After treatment,all 4 cases were discharged from hospital.Conclusion Children with recurrent pneumonia(bacterial or fungal infection),skin and soft tissue infection,tuberculosis infection,lymphadenitis,and nodular changes in lung imaging should be suspected to have CGD,and gene sequencing is helpful for diagnosis.

关 键 词：肉芽肿病 慢性 X染色体 基因突变 反复呼吸道感染 曲霉菌 

分 类 号：R725.9[医药卫生—儿科]