Elevated lung clearance index in infants with cystic fibrosis shortly after birth
Elisabeth Kieninger1,2, Sophie Yammine1,2, Insa Korten1,3
1Paediatric Respiratory Medicine, Inselspital, University Children's Hospital of Bern, University of Bern, Bern, Switzerland.
Insights
Lung function impairment is common in infants with cystic fibrosis (CF) shortly after birth. Abnormal lung clearance index (LCI) and functional residual capacity (FRC) indicate early disease, useful for monitoring CF progression.
Area of Science:
- Pediatric Pulmonology
- Neonatal Medicine
- Genetic Diseases
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs, primarily the lungs.
- Early detection of lung function impairment in infants with CF is crucial for timely intervention.
- Newborn screening enables early diagnosis of CF, but the onset of lung disease in infancy remains unclear.
Purpose of the Study:
- To assess lung function shortly after birth in infants diagnosed with CF via newborn screening.
- To determine the prevalence and severity of abnormal lung function in CF infants compared to healthy controls.
- To identify potential noninvasive markers for monitoring CF lung disease in early infancy.
Main Methods:
- Prospective cohort study involving infants with CF and healthy controls.
- Infant lung function measurements including lung clearance index (LCI), functional residual capacity (FRC), and tidal breathing parameters.
- Analysis of abnormal lung function defined as z-scores exceeding ±1.64.
Main Results:
- 53 infants with CF and 57 controls were enrolled.
- Infants with CF showed elevated LCI and FRC, and decreased ratio of time to peak tidal expiratory flow to expiratory time compared to controls.
- Abnormal lung function (LCI or FRC > 1.64 z-scores) was present in 41.5% of CF infants shortly after birth.
Conclusions:
- Abnormal lung function is prevalent in infants with cystic fibrosis shortly after birth.
- Ventilation inhomogeneity (elevated LCI) and hyperinflation (elevated FRC) may serve as early, noninvasive markers for CF lung disease.
- These parameters could be valuable outcome measures for future intervention studies in infants with CF.
Abstract:
It is not known at what age lung function impairment may arise in children with cystic fibrosis (CF). We assessed lung function shortly after birth in infants with CF diagnosed by newborn screening.We performed infant lung function measurements in a prospective cohort of infants with CF and healthy controls. We assessed lung clearance index (LCI), functional residual capacity (FRC) and tidal breathing parameters. The primary outcome was prevalence and severity of abnormal lung function (±1.64 z-scores) in CF.We enrolled 53 infants with CF (mean age 7.8 weeks) and 57 controls (mean age 5.2 weeks). Compared to controls, LCI and FRC were elevated (mean difference 0.30, 95% CI 0.02-0.60; p=0.034 and 14.5 mL, 95% CI 7.7-21.3 mL; p<0.001, respectively), while ratio of time to peak tidal expiratory flow to expiratory time was decreased in infants with CF. In 22 (41.5%) infants with CF, either LCI or FRC exceeded 1.64 z-scores; three infants had both elevated LCI and FRC.Shortly after birth, abnormal lung function is prevalent in CF infants. Ventilation inhomogeneity or hyperinflation may serve as noninvasive markers to monitor CF lung disease and specific treatment effects, and could thus be used as outcome parameters for future intervention studies in this age group.
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