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Cystic fibrosis in pediatrics

Cystic fibrosis (CF) is one of the most common genetically determined diseases in the Netherlands. Mutations on many genes have been found to be responsible for the disease. The extent of the disorder of transepithelial transport of chloride varies with each mutation. Modern diagnostic procedures entail the sweat test, electrophysiological studies, DNA analysis, and in the future possibly also analysis of cells from peripheral blood. Such studies, and the interpretation of the findings, require special expertise, which in the Netherlands is concentrated in academic centers. Due to more refined diagnostic procedures an increasing number of people is now being recognized as having more benign forms of CF.

Viscous plugs are formed in lungs, gastro-intestinal tract and vasa deferentia, leading to organ damage and an obstructive ventilatory defect. Most patients die from respiratory insufficiency and repeated lung infections, or from liver failure. Organ damage may be slowed down or postponed by early identification of patients and early treatment. There is international consensus that patients with CF are best treated and their health status monitored in specialised centers (see literature). Mortality due to CF has decreased appreciable over the last decades, the great majority of patients now reaching adulthood: CF is no longer exclusively a disease of childhood.

Until recently patient with CF were occasionally detected at a late stage, in particular the “mild forms”. In the Netherlands, as of 2011, due to neonatal screening in principle all patients are identified right after birth.

References cystic fibrosis
1 J van der Laag, M Sinaasappel, HGM Heijerman, red., 1998 van Zuiden Communications B.V., Alphen aan den Rijn. Uitgave Centraal Begeleidingsorgaan voor de Intercollegiale Toetsing, Utrecht.
2 2. O'Sullivan BP, Freedman SD. Cystic fibrosis. Lancet 2009;373(9678): 1891-1904.
   
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