小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 既往感染病史
- 呼吸短促
- 肛周疼痛
- 腰部疼痛
- 红色皮肤病变
- 胸部检查异常
- 寒战
- 发热
- 慢性淋巴结肿大
- 生长缓慢
- 关节痛
- 面部疼痛
- 脉络膜视网膜病变
- 皮肤瘢痕形成
其他诊断因素
- 疲劳
- 腹泻
- 腹痛
- 咳嗽
- 厌食
- 关节痛
- 恶心和呕吐
- 血尿
- 尿流异常
- 肝脾肿大
- 盘状红斑家族史
- 口腔溃疡
- 皮疹
- 胃肠道症状
危险因素
- CGD 家族史
- 年龄＜5 岁
- 男性
- X 连锁携带者 X 染色体反常地失活偏移
- 髓过氧化酶及 FCgammaRIIIb 多态性
诊断性检查
首要检查
- 全血细胞计数 (FBC)
- 红细胞沉降率 (ESR)
- C 反应蛋白 (CRP)
- CT
- 超声
- 全身 F-18 氟代脱氧葡萄糖 (FDG) PET 扫描
- 结肠镜检查
- 四唑氮蓝 (NBT) 试验
- 二氢罗丹明 (DHR) 123 试验
需考虑的检查
- 对编码 NADPH 氧化酶成分的基因进行基因测序
- 免疫印迹法
- 流式细胞术分析各 NADPH 氧化酶成分
治疗流程
活动性非危及生命的感染：第 1 次发作
活动性危及生命的感染：首次发作
初始经验治疗之后的治疗
急性发作消退后
撰稿人
作者
David Lowe, MA, MB Bchir, PhD, MRCP
Consultant Clinical Immunologist
The Royal Free Hospital
London
UK
利益声明
DL participated in a one-off advisory board for and received support to attend a conference from Biotest (UK).
鸣谢
Dr David Lowe would like to gratefully acknowledge Dr Adrian Thrasher, Dr Rebecca A. Marsh, and Dr Jack J. Bleesing, previous contributors to this monograph. AT is an author of a number of references cited in this monograph. RAM and JJB declare that they have no competing interests. Dr Rebecca A. Marsh and Dr Jack J. Bleesing wish to thank Dan Marmer, Carrie Koenig, and the Cincinnati Children's Hospital Clinical Diagnostic Immunology Lab. They also wish to thank Steven M. Holland, MD, Thomas Fleisher, MD, and Anthony Segal, MD, PhD, for helpful correspondence.
同行评议者
Steven M. Holland, MD
Laboratory of Clinical Infectious Diseases
National Institute of Allergy and Infectious Diseases
NIH
Bethesda
MD
利益声明
SMH declares that he has no competing interests.
Andrew Gennery, MD
Reader in Paediatric Immunology & HSCT
Institute of Cellular Medicine
Medical School
Newcastle University
Newcastle-upon-Tyne
UK
利益声明
AG is an author of a reference cited in this monograph. AG declares that he has no competing interests.
鉴别诊断
- I 型白细胞黏附缺陷
- 葡萄糖-6-磷酸脱氢酶缺乏症
- 髓过氧化物酶缺乏
更多 鉴别诊断患者教育信息
脓疱病
更多 患者教育信息
登录或订阅即可浏览 BMJ Best Practice 临床实践完整内容
内容使用需遵循免责声明