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Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis.

Abstract

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.

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  • Authors+Show Affiliations

    ,

    Department of Pediatrics, University of Miami School of Medicine, Florida, USA.

    , ,

    Source

    MeSH

    Adolescent
    Body Height
    Body Weight
    Cystic Fibrosis
    Cystic Fibrosis Transmembrane Conductance Regulator
    Energy Metabolism
    Exercise Test
    Female
    Forced Expiratory Volume
    Genotype
    Heterozygote
    Homozygote
    Humans
    Lung
    Male
    Maximal Midexpiratory Flow Rate
    Mutation
    Oxygen Consumption
    Peak Expiratory Flow Rate
    Phenotype
    Phenylalanine
    Physical Exertion
    Prognosis
    Rest
    Retrospective Studies
    Vital Capacity

    Pub Type(s)

    Comparative Study
    Journal Article

    Language

    eng

    PubMed ID

    8894334

    Citation

    Kaplan, T A., et al. "Lack of Effect of Delta F508 Mutation On Aerobic Capacity in Patients With Cystic Fibrosis." Clinical Journal of Sport Medicine : Official Journal of the Canadian Academy of Sport Medicine, vol. 6, no. 4, 1996, pp. 226-31.
    Kaplan TA, Moccia-Loos G, Rabin M, et al. Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis. Clin J Sport Med. 1996;6(4):226-31.
    Kaplan, T. A., Moccia-Loos, G., Rabin, M., & McKey, R. M. (1996). Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis. Clinical Journal of Sport Medicine : Official Journal of the Canadian Academy of Sport Medicine, 6(4), pp. 226-31.
    Kaplan TA, et al. Lack of Effect of Delta F508 Mutation On Aerobic Capacity in Patients With Cystic Fibrosis. Clin J Sport Med. 1996;6(4):226-31. PubMed PMID: 8894334.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis. AU - Kaplan,T A, AU - Moccia-Loos,G, AU - Rabin,M, AU - McKey,R M,Jr PY - 1996/10/1/pubmed PY - 2001/3/28/medline PY - 1996/10/1/entrez SP - 226 EP - 31 JF - Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine JO - Clin J Sport Med VL - 6 IS - 4 N2 - 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. SN - 1050-642X UR - https://www.unboundmedicine.com/medline/citation/8894334/Lack_of_effect_of_delta_F508_mutation_on_aerobic_capacity_in_patients_with_cystic_fibrosis_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8894334.ui DB - PRIME DP - Unbound Medicine ER -