Exhaled molecular profiles in the assessment of cystic fibrosis and primary ciliary dyskinesia

J Cyst Fibros. 2013 Sep;12(5):454-60. doi: 10.1016/j.jcf.2012.12.010. Epub 2013 Jan 27.


Background: Early diagnosis and monitoring of disease activity are essential in cystic fibrosis (CF) and primary ciliary dyskinesia (PCD). We aimed to establish exhaled molecular profiles as the first step in assessing the potential of breath analysis.

Methods: Exhaled breath was analyzed by electronic nose in 25 children with CF, 25 with PCD and 23 controls. Principle component reduction and canonical discriminant analysis were used to construct internally cross-validated ROC curves.

Results: CF and PCD patients had significantly different breath profiles when compared to healthy controls (CF: sensitivity 84%, specificity 65%; PCD: sensitivity 88%, specificity 52%) and from each other (sensitivity 84%, specificity 60%). Patients with and without exacerbations had significantly different breath profiles (CF: sensitivity 89%, specificity 56%; PCD: sensitivity 100%, specificity 90%).

Conclusion: Exhaled molecular profiles significantly differ between patients with CF, PCD and controls. The eNose may have potential in disease monitoring based on the influence of exacerbations on the VOC-profile.

Keywords: Cystic fibrosis; Electronic nose; Exhaled breath; Primary ciliary dyskinesia; Volatile Organic Compounds.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Breath Tests
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / microbiology
  • Female
  • Humans
  • Infant
  • Kartagener Syndrome / diagnosis*
  • Kartagener Syndrome / microbiology
  • Male