Cystic fibrosis in neonates and infants.

摘要

Cystic fibrosis (CF) is a common autosomal recessive disorder, characterized by chronic bronchopulmonary infection, pancreatic insufficiency, and subsequently, other multisystem complications. Most children are diagnosed before school age. Here we review the pathophysiology of the condition, the age-related presentations of CF up until school age, and the appropriate use of diagnostic tests. A specialist centre should supervise treatment. There are exciting new advances in monitoring techniques in the preschool years, including CT scanning, bronchoscopy and gas mixing indices. Recent advances in the knowledge of the molecular biology of CF hold out the hope of specific therapies which can reverse the underlying defect causing death from CF lung disease.