The first 2 years of life: implications of recent findings

This review highlights important observations published in the past 2 years that provide insight regarding the early pathophysiology of cystic fibrosis lung disease and that indicate potentially useful clinical endpoints for disease management and clinical trials.

Lung disease is evident soon after diagnosis even in children diagnosed with cystic fibrosis following newborn screening. Neutrophilic airway inflammation and lower airway infection with Pseudomonas aeruginosa appear to be important factors associated with lung disease including bronchiectasis detected using low-dose computed tomography. Children with cystic fibrosis managed in specialist centres can develop bronchiectasis in the first year of life and computed tomography reveals that bronchiectasis is present in more than 40% of children with cystic fibrosis by 4 years of age.

Current management of newly diagnosed children with cystic fibrosis in specialist centres fails to prevent lung damage. In order to better define relations between infection, inflammation and lung damage, simple, sensitive and specific markers of lower airway infection are required. Data emerging from systematic early surveillance programs indicate that measures of lung damage, lung function, airway inflammation and endobronchial infection could be used as outcome measures for early intervention studies to prevent the respiratory sequelae of cystic fibrosis.