Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis.
OBJECTIVE
As aerobic exercise capacity, as defined by VO2max, is associated with patient functioning and possibly prognosis in cystic fibrosis (CF), correlations between VO2max phenotype and genotype may be of value.


METHODS
Retrospective clinical series.


METHODS
Cystic fibrosis referral clinic.


METHODS
Convenience sample of 35 patients with CF consecutively referred for exercise testing.


METHODS
Blood samples were examined for mutations of cystic fibrosis transmembrane regulator (CFTR), Height, wight, pulmonary function, resting-energy expenditure, VO2max, and other exercise variables were assessed in each referred patient.


RESULTS
Statistical comparison of 10 patients who were homozygous for the dF508 mutation of CFTR with 20 patients heterozygous for dF508 revealed no significant differences for height, weight, pulmonary function, resting-energy expenditure, VO2max, or any other exercise variables.


CONCLUSIONS
These results imply a limited effect of the mutation status on overall patient functioning and prognosis. Future identification of more rare CFTR mutations and other genes and subsequent classification of patients in a manner reflective of the cellular physiology may lead to different results.
Department of Pediatrics, University of Miami School of Medicine, Florida, USA.
T A
TA
Kaplan
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G
Moccia-Loos
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M
Rabin
R M
RM
McKey
D000293:Adolescent; D001827:Body Height; D001835:Body Weight; D003550:Cystic Fibrosis / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000097:blood / Q000235:genetics*; D004734:Energy Metabolism; D005080:Exercise Test; D005260:Female; D005541:Forced Expiratory Volume / Q000502:physiology; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008297:Male; D008450:Maximal Midexpiratory Flow Rate / Q000502:physiology; D009154:Mutation / Q000235:genetics*; D010101:Oxygen Consumption / Q000235:genetics*; D010366:Peak Expiratory Flow Rate / Q000502:physiology; D010641:Phenotype; D010649:Phenylalanine / Q000235:genetics*; D005082:Physical Exertion / Q000502:physiology; D011379:Prognosis; D012146:Rest / Q000502:physiology; D012189:Retrospective Studies; D014797:Vital Capacity / Q000502:physiology
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D010649:Phenylalanine