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Paediatric Pulmonology and Allergology
2005 April, Vol. VIII, No. 1 (2828-2837)
SEVERITY MODIFIERS OF CF LUNG DISEASE
James Yankaskas
University North Carolina Cystic Fibrosis Center, Chapel Hill, USA
It is widely acknowledged that the last few decades’ profound advances in the understanding of the disease and the management of its pulmonary and digestive manifestations have led to a dramatic increase in the population of adults with cystic fibrosis. Cystic fibrosis is caused by mutations in a single gene of cystic fibrosis transmembrane conductance regulator, but the clinical manifestations vary tremendously. Symptoms and severity of the disease are very variabel. This variability in disease manifestations and progression may be due in part to (1) different cystic fibrosis transmembrane conductance regulator gene mutations, (2) intron polymorphisms that affect cystic fibrosis transmembrane conductance regulator gene expression levels, (3) infections with certain bacteria, (4) genetic modifiers, (5) intensity of cystic fibrosis care, and combinations of these factors. Observations of subtle differences among patients, paying close attention to those who are faring either better or worse than we expect, can lead to fruitful research and ultimately to improved treatments and better lives for all of our patients.