LACK OF EFFECT OF DELTA-F508 MUTATION ON AEROBIC CAPACITY IN PATIENTSWITH CYSTIC-FIBROSIS

Objective: As aerobic exercise capacity, as defined by vO(2max), is as sociated with patient functioning and possibly prognosis in cystic fib rosis (CF), correlations between vO(2max) phenotype and genotype may b e of value. Design: Retrospective clinical series. Setting: Cystic fib rosis referral clinic. Patients: Convenience sample of 35 patients wit h CF consecutively referred for exercise testing. Main outcome measure s: Blood samples were examined for mutations of cystic fibrosis transm embrane regulator (CFTR). Height, weight, pulmonary function, resting- energy expenditure, vO(2max), and other exercise variables were assess ed in each referred patient. Results: Statistical comparison of 10 pat ients who were homozygous for the dF508 mutation of CFTR with 20 patie nts heterozygous for dF508 revealed no significant differences for hei ght, weight, pulmonary function, resting-energy expenditure, vO(2max), or any other exercise variables. Conclusions: These results imply a l imited effect of the mutation status on overall patient functioning an d prognosis. Future identification of more rare CFTR mutations and oth er genes and subsequent classification of patients in a manner reflect ive of the cellular physiology may lead to different results.