Perspectives
Cystic fibrosis
What and when to collect from infants with cystic fibrosis
Correspondence to:
Iolo Doull, Respiratory/Cystic Fibrosis Unit, Children’s Hospital for Wales, Cardiff CF14 4XW, UK; doullij@cf.ac.uk
Perspective on the papers by Cipolli et al and Hilliard et al (see pages 842 and 898)
| The first 150 words of the full text of this article appear below. |
Audit used appropriately can significantly alter our practice, and two such studies appear in this month’s issue of Archives of Disease in Childhood. The first from Italy and Australia addresses the outcome of infants detected through newborn screening (NBS) who are pancreatic sufficient at birth, and informs us that outcome is dependent on genotype.1 The second from London assesses the value of flexible bronchoscopy to obtain a brochoalveolar lavage (BAL) following a clinical diagnosis of cystic fibrosis (CF), and highlights the fact that the preschool CF child often has ongoing infection despite the absence of symptoms or positive upper airway culture.2
CF is caused by mutations within the gene encoding the protein cystic fibrosis transmembrane conductance regulator (CFTR), and it is now clear that there is a hierarchy of disease severity associated with different genotypes. Mutations within the gene can be divided into five broad categories (I–V)
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