BMJ Best Practice
最后审核时间: 十月 2018
最近更新时间: 一月 2018

小结

定义

病史和查体

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
  • 发育不良

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
  • 吸收不良性粪便伴乳糜泻

危险因素

  • CF 的家族史
  • 已知双亲均为携带者
  • 种族性

诊断性检查

首要检查

  • 汗液试验
  • 免疫活性胰蛋白酶原(新生儿筛查)
  • 基因检测
全部具体信息

需要考虑的检查

  • 鼻窦X线
  • 深部咽拭子
全部具体信息

治疗流程

贡献者

Associate Professor of Clinical Pediatrics

The Children's Hospital of Philadelphia

Perelman School of Medicine at the University of Pennsylvania

Philadelphia

PA

利益冲突披露
SBG declares that he has no competing interests.

Assistant Professor of Pediatrics

The Children's Hospital of Philadelphia

Perelman School of Medicine at the University of Pennsylvania

Philadelphia

PA

利益冲突披露
MBJ declares that she has no competing interests.

Dr Samuel B. Goldfarb and Dr Maureen Banfe Josephson would like to gratefully acknowledge Dr James L. Kreindler, a previous contributor to this monograph. JLK declares that he has no competing interests.

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Associate Professor of Medicine

Medical Director

Lung Transplant Program

University of Chicago Hospitals

Chicago

IL

利益冲突披露
SMB declares that she has no competing interests.

Associate Professor & Reader in Child Health

Division of Child Health

University of Nottingham

Queens Medical Centre

Nottingham

UK

利益冲突披露
AS declares that he has no competing interests.

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