Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine · 1996
Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis.
Сравнительное исследованиеСтатьяНазвание и аннотация: Перевод в очереди
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Kaplan T A, Moccia-Loos G, Rabin M, McKey R M
Аннотация
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.
DESIGN: Retrospective clinical series.
SETTING: Cystic fibrosis referral clinic.
PATIENTS: Convenience sample of 35 patients with CF consecutively referred for exercise testing.
MAIN OUTCOME MEASURES: 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.
DESIGN: Retrospective clinical series.
SETTING: Cystic fibrosis referral clinic.
PATIENTS: Convenience sample of 35 patients with CF consecutively referred for exercise testing.
MAIN OUTCOME MEASURES: 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.
Предметные рубрики MeSH
AdolescentBody HeightBody WeightCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorEnergy MetabolismExercise TestFemaleForced Expiratory VolumeGenotypeHeterozygoteHomozygoteHumansLungMaleMaximal Midexpiratory Flow RateMutationOxygen ConsumptionPeak Expiratory Flow RatePhenotypePhenylalaninePhysical ExertionPrognosisRestRetrospective StudiesVital Capacity