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Cystic fibrosis

Last reviewed: 4 Oct 2024
Last updated: 10 Jul 2024

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 rhinosinusitis
  • genital abnormalities in males
  • hemoptysis
Full details

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
Full details

Risk factors

  • family history of CF
  • known carrier status of both parents
  • ethnicity
Full details

Diagnostic tests

1st tests to order

  • sweat test
  • genetic testing
Full details

Tests to consider

  • sinus imaging
  • deep throat swab
Full details

Treatment algorithm

ACUTE

neonates with meconium ileus/partial distal intestinal obstruction

complete intestinal obstruction or peritonitis

acute respiratory infection

ONGOING

respiratory disease

gastrointestinal disease

Contributors

Authors

Samuel B. Goldfarb, MD

Professor of Pediatrics

Masonic Children's Hospital

University of Minnesota School of Medicine

Minneapolis

MN

Disclosures

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

Pi Chun (Jennifer) Cheng, MD, MS

Assistant Professor of Pediatrics

Riley Hospital for Children

Indiana University School of Medicine

Indianapolis

IN

Disclosures

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

Disclosures

MBJ declares that she has no competing interests.

Acknowledgements

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.

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.

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