title: Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.
abstract: In an attempt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis 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 508 patients did not differ from that of compound heterozygotes or of patients with other unspecified genotypes. Pulmonary manifestations varied widely in all genotype groups. With the given number of patients, a slightly higher mortality of delta F508 homozygotes could have been coincidental. We conclude that up to the age of 8.5-10 years the severity of pulmonary lesions and nutritional deficiencies is not related to the delta F508 mutation.
authors.affiliation: Centro Regionale Veneto Fibrosi Cistica, Ospedale Civile Maggiore, Verona, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Borgo
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: A
authors.initials: A
authors.lastname: Bonizzato
authors.forename: G
authors.initials: G
authors.lastname: Cabrini
authors.forename: G
authors.initials: G
authors.lastname: Mastella
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D002648:Child; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005541:Forced Expiratory Volume; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008297:Male; D009154:Mutation; D009752:Nutritional Status; D010641:Phenotype