Early Detection of Lung Function Abnormalities in Young Children with Cystic Fibrosis

Introduction

Cystic fibrosis (CF) is the most common lethal genetic disorder in the Caucasian population and affects at least 70 000 individuals worldwide. In this condition, chronic inflammation and infection result in destruction of lung architecture eventually leading to death. Despite significant advances in recent decades the long-term prognosis remains poor with a median life expectancy of ∼37 years in the United States.1 There is increasing evidence that respiratory pathogens,2, 3 structural lung damage,4, 5 and reduced lung function6 exist in the first months of life following diagnosis after newborn screening (NBS) for CF. It is becoming clear that further significant advances in CF care will, of necessity, require treatments in early life. As such, it is imperative that we have suitable methods for the detection of the onset and progression of early CF lung disease.7, 8

Abstract

The onset of lung disease in cystic fibrosis (CF) begins early in life with respiratory infection, inflammation, and structural lung damage all reported in infants with CF in the first months of life. As new treatments become available, it is essential that we have outcome measures that can be used to track disease progression and treatment efficacy. In this review, we have examined the role of lung function testing in infants and preschool children with CF. In particular, we have focused on the ability of the various lung function tests to detect the presence of respiratory pathogens and structural lung disease, increased inflammation, and the onset of acute exacerbations.

Keywords

cystic fibrosis, infants, preschool children, lung function, lung disease