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囊性纤维化

最后审阅: 21 Oct 2024
最后更新: 22 Dec 2023

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
完整详情

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
完整详情

危险因素

  • CF 家族史
  • 已知双亲均为携带者
  • 种族
完整详情

诊断性检查

首要检查

  • 发汗试验
  • 基因检测
完整详情

需考虑的检查

  • 鼻窦成像
  • 深部咽拭子
完整详情

治疗流程

急症处理

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

持续性治疗

呼吸系统疾病

胃肠道疾病

撰稿人

作者

Samuel B. Goldfarb, MD

Professor of Pediatrics

Masonic Children's Hospital

University of Minnesota School of Medicine

Minneapolis

MN

利益声明

SBG declares a personal interest in the Cystic Fibrosis Therapeutic Development Network (TDN) involving multiple CF multicentred studies.

Pi Chun (Jennifer) Cheng, MD, MS

Assistant Professor of Pediatrics

Riley Hospital for Children

Indiana University School of Medicine

Indianapolis

IN

利益声明

PCC declares that she 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, Dr Pi Chun (Jennifer) Cheng, 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.

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