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
- history of pancreatitis
- history of acute appendicitis
- enlarged liver or spleen
Risk factors
- family history 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
Investigations to consider
- sinus x-ray
- deep throat swab
Treatment algorithm
neonates with meconium ileus/partial distal intestinal obstruction
complete intestinal obstruction or peritonitis
acute respiratory infection
asthma exacerbation without infection
respiratory disease
gastrointestinal disease
Contributors
Authors
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
Disclosures
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
Disclosures
MBJ declares that she has no competing interests.
Acknowledgements
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
Sangeeta M. Bhorade, MD
Associate Professor of Medicine
Medical Director
Lung Transplant Program
University of Chicago Hospitals
Chicago
IL
Disclosures
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
Disclosures
AS declares that he has no competing interests.
Differentials
- Primary ciliary dyskinesia
- Primary immunodeficiency
- Asthma
More DifferentialsGuidelines
- Lung transplant referral for individuals with cystic fibrosis: Cystic Fibrosis Foundation consensus guidelines
- Cystic Fibrosis Foundation pulmonary guidelines: use of cystic fibrosis transmembrane conductance regulator modulator therapy in patients with cystic fibrosis
More GuidelinesPatient leaflets
Cystic fibrosis: what is it?
Cystic fibrosis: what treatments work?
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