Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis

Am J Respir Crit Care Med. 2003 Nov 1;168(9):1100-8. doi: 10.1164/rccm.200303-434OC. Epub 2003 Aug 13.


Although early diagnosis of cystic fibrosis (CF) can lead to nutritional benefits, there has been uncertainty about pulmonary outcomes. Using a randomized controlled trial with unique unblinding/surveillance, we evaluated patients with CF who received similar treatment after being assigned to an early diagnosis (screened) group or to a standard diagnosis (control) group. When the youngest patient was 7 years of age, we compared outcomes using pulmonary function data and quantitative chest radiology. In the screened group (56 patients), diagnosis was made at a younger age of 12.4 weeks, compared with the diagnosis in control group (47 control patients) at the age of 95.8 weeks, but included a significantly greater proportion of patients with deltaF508 genotypes and pancreatic insufficiency. The first chest radiograph showed significantly fewer abnormalities in the screened group; but, over time, the two groups converged, and after 10 years of age the screened patients showed worse chest X-ray scores associated with earlier acquisition of Pseudomonas aeruginosa. No differences were detected in any measure of pulmonary dysfunction, which was generally mild in each group. Although CF neonatal screening provides a potential opportunity for better pulmonary outcomes, it appears that respiratory infections and pancreatic status are the dominant factors in pulmonary prognosis.

Publication types

  • Clinical Trial
  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Age Factors
  • Bronchial Diseases / diagnostic imaging
  • Bronchial Diseases / etiology*
  • Child
  • Child, Preschool
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Early Diagnosis
  • Exocrine Pancreatic Insufficiency / complications
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neonatal Screening*
  • Outcome Assessment, Health Care
  • Prospective Studies
  • Pseudomonas Infections / complications
  • Pseudomonas aeruginosa
  • Radiography
  • Respiratory Tract Infections / complications
  • Respiratory Tract Infections / microbiology
  • Wisconsin