Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • positive newborn screen
  • failure to pass meconium
  • failure to thrive
  • voracious appetite
  • wet-sounding cough
  • recurrent infection
  • chronic sinusitis
  • genital abnormalities in males
  • hemoptysis

Other diagnostic factors

  • malabsorptive stool with steatorrhea
  • digital clubbing
  • gastroesophageal reflux
  • wheeze
  • increased anteroposterior (AP) diameter of the chest
  • hx of pancreatitis
  • hx of acute appendicitis
  • enlarged liver or spleen

Risk factors

  • FHx of CF
  • known carrier status of both parents
  • ethnicity

Diagnostic investigations

1st investigations to order

  • sweat test
  • immunoreactive trypsinogen (IRT) test (newborn screening)
  • genetic testing
Full details

Investigations to consider

  • sinus x-ray
  • deep throat swab
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Associate Professor of Clinical Pediatrics

The Children's Hospital of Philadelphia

Perelman School of Medicine at the University of Pennsylvania

Philadelphia

PA

Disclosures

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

Disclosures

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.

Peer reviewers VIEW ALL

Associate Professor of Medicine

Medical Director

Lung Transplant Program

University of Chicago Hospitals

Chicago

IL

Disclosures

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

Disclosures

AS declares that he has no competing interests.

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