EDITORIAL
Diagnosing CF
Diagnosing CF: sweat, blood and years
1 Respiratory Medicine Group, Queen’s University, Belfast, UK
2 Health and Rehabilitation Sciences Research Institute, University of Ulster, UK
Correspondence to:
Correspondence to:
Professor J S Elborn
Professor of Respiratory Medicine, Queen’s University, Belfast and Director of the Northern Ireland Adult Cystic Fibrosis Centre, City Hospital, Belfast BT9 7AB, UK; stuart.elborn@bch.n-i.nhs.uk
Use of algorithms for the diagnosis of CF
Keywords: cystic fibrosis; lung disease; diagnostic algorithms; CFTR gene; sweat test
| The first 150 words of the full text of this article appear below. |
The diagnosis of cystic fibrosis (CF) is usually straightforward. The accepted criteria for the diagnosis of CF is one phenotypic characteristic of CF (such as lung disease or pancreatic malabsorption), or a positive neonatal screening result, or a positive history of CF in a sibling plus a raised sweat chloride level, positive nasal potential difference (PD) test, or two mutations in the CFTR gene.1 In countries with neonatal screening the diagnosis is made in most cases using either an immunoreactive trypsinogen (IRT) test on a heel prick blood sample or direct detection of genetic mutations.2 Missed cases (false negatives) from screening are almost all pancreatic sufficient with minimal lung disease, and may have a consequent delay in diagnosis.2 In countries which do not yet have neonatal screening for CF, most children present in the first year of life with failure to thrive, recurrent respiratory infections, or both.2 For
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