Cystic fibrosis (CF) is an autosomal recessively inherited disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and characterized clinically by chronic suppurative airways disease and exocrine pancreatic failure. The CFTR gene was cloned in 1989 and it is abundantly clear that there is great heterogeneity in the clinical manifestations of cystic fibrosis. The disease commonly presents in early childhood as failure to thrive with the children developing irreversible airways disease in the first decade. However, there is a wide spectrum of disease presentation and increasingly adults are being diagnosed who obviously had minimal or no signs of diseased in childhood but still carry 2 disease-causing mutations of CFTR. The prognosis for these patients may be excellent.
It is vital to be able to distinguish these categories of patients and have a Europe-wide consensus about terminology of these different disease patterns. Together with this, a number of European countries have begun neonatal screening for CF and there are relatively large numbers of infants whose diagnosis is uncertain due to false positive screening tests. The European Diagnostic Network was set up 3 years ago to evaluate new diagnostic techniques and to standardize procedures throughout Europe. The goal of this Network is to achieve pan-European cooperation on the definitions of disease, standardization of electrophysiological and genetic techniques and the exchange of information, difficult cases and the development of new technologies.
Scientific Programme and Innovation
The "standard " test for diagnosing CF is the sweat test. This test has been modified in recent years and the Network will standardize the methodology across Europe. Newer tests have been developed to ascertain the electrophysiological defect in CF, the lack of chloride ion transport. The nasal potential difference test examines the chloride transport under the inferior turbinate of the nose and the intestinal current measurement examines CFTR function in rectal biopsies. Both these tests need to be more widely used and standardized for use as a diagnostic aid in Europe. There are over 1400 mutations in the CFTR gene. The European Diagnostic Network of geneticists will evaluate molecular technology for the correct diagnosis in the different populations. The ECFSDN has published an algorithm on the diagnosis of CF -Thorax.2006;61:627-35 and its immediate projects are to validate this across Europe.
The ECFSDN meets at least twice a year usually at the ECFS conference and at a separate weekend during the year
Coordinator: Dr Michael Wilschanski