Chronic Respiratory Disease

 

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Chronic Respiratory Disease, Vol. 1, No. 4, 205-210 (2004)
DOI: 10.1191/1479972304cd044rs

Reviews

Establishing a diagnosis of cystic fibrosis

K W Southernl

University of Liverpool, Liverpool, UK;Institute of Child Health, University of Liverpool, Royal Liverpool Children's Hospital, Eaton Road, Alder Hey, Liverpool L12 2AP, UK kwsouth{at}liv.ac.uk

D Peckham

St James's University Teaching Hospital, Leeds, UK

Cystic fibrosis (CF) is a recessively inherited condition caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Characterization of the genetic defect has improved understanding of the condition and, in the majority of cases, diagnosis is straightforward. However, in a significant number, diagnosis remains a challenge. This paper will discuss the management of these issues and reflect on atypical presentations. In addition we will discuss situations in which genetic variations of the CFTR gene are not associated with a classical CF phenotype and the implications for practice in both paediatric and adult clinics.

Key Words: cystic fibrosis • cysticfibrosis transmembrane conductance regulator gene (CFTR gene) • faecal elastase • nasal potential difference (PD) • sweat test


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