CYSTIC-FIBROSIS - THE DELTA-F508 MUTATION DOES NOT LEAD TO AN EXCEPTIONALLY SEVERE PHENOTYPE - A COHORT STUDY

In an attenmpt to ascertain a relationship between genotype and phenot ype, we studied the pulmonary and nutritional status of 123 cystic fib rosis patients with known genotype at an age of 8.5-10 years. Patients represent a cohort as they are almost all those born and diagnosed in a given area and period. They were followed at a single centre using uniform diagnostic and treatment protocols. Pulmonary and nutritional status of homozygous Delta F508 patients did not differ from that of c ompound heterozygotes or of patients with other unspecified geneotypes . Pulmonary manifestations varied widely in all geneotype groups. With the given number of patients, a slightly higher mortality of Delta F5 08 homozygotes could have been coincidental. We conclude that up to th e age of 8.5-10 years the severity of pulmonary lesions and nutritiona l deficiencies is not related to the Delta F508 mutation.