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Related Concept Videos

Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
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Cystic Fibrosis: Pathogenesis01:23

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Related Experiment Video

Updated: Dec 20, 2025

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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Neonatal screening programme for CF: Results from the Irish Comparative Outcomes Study (ICOS).

Catherine Fitzgerald1, Barry Linnane2,3, Sherly George4

  • 1School of Public Health, Physiotherapy and Sports Science, University College Dublin, Dublin, Ireland.

Pediatric Pulmonology
|May 30, 2020
PubMed
Summary

Newborn screening (NBS) for cystic fibrosis (CF) in Ireland improved child growth and reduced hospitalizations for infections. NBS also delayed Pseudomonas aeruginosa acquisition compared to clinical diagnosis in CF patients.

Keywords:
ICOScohortcystic fibrosisscreening

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Area of Science:

  • Pediatrics
  • Genetics
  • Public Health

Background:

  • Newborn screening (NBS) for cystic fibrosis (CF) was implemented in Ireland in July 2011.
  • A comparative historical cohort study was designed to assess clinical outcomes before and after NBS implementation.

Purpose of the Study:

  • To evaluate the impact of NBS on clinical outcomes in children with CF.
  • To compare growth, infection acquisition, and hospitalization rates between clinically diagnosed and NBS-detected CF patients.

Main Methods:

  • A cohort of 232 children with CF was recruited (93 clinically diagnosed, 139 NBS-detected).
  • Data on clinical diagnosis, growth parameters, and Pseudomonas aeruginosa acquisition were collected.
  • Statistical analysis was performed using SPSS.

Main Results:

  • Children diagnosed via NBS showed significantly better weight and height at 6 and 12 months.
  • NBS-detected children had a longer time to Pseudomonas aeruginosa acquisition post-diagnosis.
  • Clinical diagnosis was independently associated with hospitalization for infective exacerbations before 36 months.

Conclusions:

  • Newborn screening for CF in Ireland is associated with improved growth and reduced hospitalizations for acute exacerbations.
  • NBS leads to delayed Pseudomonas aeruginosa acquisition from diagnosis.
  • Screening practices may explain the lack of significant difference in P. aeruginosa acquisition from birth between cohorts.