Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- positive newborn screen
- failure to pass meconium
- failure to thrive
- voracious appetite
- wet-sounding cough
- recurrent infection
- chronic sinusitis
- genital abnormalities in males
- haemoptysis
Other diagnostic factors
- malabsorptive stool with steatorrhoea
- digital clubbing
- gastro-oesophageal reflux
- wheeze
- increased anteroposterior (AP) diameter of the chest
- history of pancreatitis
- history of acute appendicitis
- enlarged liver or spleen
Diagnostic investigations
1st investigations to order
- sweat test
- immunoreactive trypsinogen (IRT) test (newborn screening)
- genetic testing
Treatment algorithm
Contributors
Authors
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 topic.
Disclosures
JLK declares that he has no competing interests.
Peer reviewers
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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