小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 新生儿筛查阳性
- 胎粪排出异常
- 生长迟缓
- 食欲亢进
- 湿性咳嗽
- 复发感染
- 慢性鼻窦炎
- 男性生殖系统异常
- 咯血
其他诊断因素
- 吸收不良性粪便伴乳糜泻
- 杵状指/趾
- 胃食管反流
- 喘鸣
- 胸廓前后径增大
- 胰腺炎病史
- 急性阑尾炎病史
- 肝脾大
危险因素
- CF 家族史
- 已知双亲均为携带者
- 种族
诊断性检查
首要检查
- 发汗试验
- 免疫活性胰蛋白酶原（新生儿筛查）
- 基因检测
需考虑的检查
- 窦 腔X 光检查
- 深部咽拭子
治疗流程
新生儿胎粪性肠梗阻/不全远端肠梗阻
完全肠梗阻或腹膜炎
急性呼吸系统感染
哮喘急性发作不伴感染
呼吸系统疾病
胃肠道疾病
撰稿人
作者
Samuel B. Goldfarb, MD
Professor of Clinical Pediatrics
The Children's Hospital of Philadelphia
Perelman School of Medicine at the University of Pennsylvania
Philadelphia
PA
利益声明
SBG declares that he has no competing interests.
Maureen Banfe Josephson, DO
Assistant Professor of Pediatrics
The Children's Hospital of Philadelphia
Perelman School of Medicine at the University of Pennsylvania
Philadelphia
PA
利益声明
MBJ declares that she has no competing interests.
鸣谢
Dr Samuel B. Goldfarb and Dr Maureen Banfe Josephson would like to gratefully acknowledge Dr James L. Kreindler, a previous contributor to this topic.
利益声明
JLK declares that he has no competing interests.
同行评议者
Sangeeta M. Bhorade, MD
Associate Professor of Medicine
Medical Director
Lung Transplant Program
University of Chicago Hospitals
Chicago
IL
利益声明
SMB declares that she has no competing interests.
Alan Smyth, MA, MBBS, MRCP, MD, FRCPCH
Associate Professor & Reader in Child Health
Division of Child Health
University of Nottingham
Queens Medical Centre
Nottingham
UK
利益声明
AS declares that he has no competing interests.
鉴别诊断
- 原发性纤毛运动障碍
- 原发性免疫缺陷病
- 哮喘
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