Lack of Effect of Delta F508 Mutation on Aerobic Capacity in Patients with Cystic Fibrosis

Kaplan, Ted A.; Moccia-Loos, Gina; Rabin, Mark; McKey, Robert M.

doi:10.1097/00042752-199610000-00004

Cited by 12 publications

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“…We did not find an association between genotype and V9O 2 ,max/kg % pred in our study, which is consistent with the results of KAPLAN et al [13], but in contrast with the findings of SELVADURAI et al [14], who showed that patients with a mild mutation (class IV and V) had a better exercise capacity than patients with a severe mutation (class I-III). KAPLAN et al [13] compared two groups of patients who were either homozygous (n510) or heterozygous (n520) for the DF508 mutation.…”

Section: Discussionsupporting

confidence: 90%

“…KAPLAN et al [13] compared two groups of patients who were either homozygous (n510) or heterozygous (n520) for the DF508 mutation. The study was limited by its small sample size.…”

Section: Discussionmentioning

confidence: 99%

“…While the severity of the CFTR mutation (mild versus severe) is associated with pancreatic insufficiency, pulmonary function and survival [11,12], data on the effect of CFTR genotype on exercise capacity are scarce [13,14]. It has been shown that CFTR is expressed in the sarcoplasmic reticulum of skeletal muscle [15,16].…”

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confidence: 99%

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Chronic infection and inflammation affect exercise capacity in cystic fibrosis

Leeuwen¹,

Slieker²,

Hulzebos³

et al. 2011

Eur Respir J

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Pulmonary function and nutritional status are important determinants of exercise capacity in patients with cystic fibrosis (CF). Studies investigating the effects of determinants, such as genotype or infection and inflammation, are scarce and have never been analysed in a multivariate longitudinal model.A prospective longitudinal cohort study was performed to evaluate whether genotype, chronic inflammation and infection were associated with changes in exercise capacity. Furthermore, we investigated whether exercise capacity can predict clinical outcome.504 exercise tests of 149 adolescents with CF were evaluated. Maximal oxygen uptake corrected for body mass % predicted declined 20% during adolescence, and was associated with immunoglobulin (Ig)G levels and chronic Pseudomonas aeruginosa infection. A lower exercise capacity was associated with a higher mortality, steeper decline in pulmonary function and greater increase in IgG levels.Since a decline in exercise capacity during adolescence was negatively associated with IgG levels and chronic P. aeruginosa infection, these data emphasise the importance of prevention and treatment of chronic inflammation and infections in patients with CF. Furthermore, a lower exercise capacity was associated with a higher mortality rate, steeper decline in pulmonary function and higher increase in IgG levels with increasing age in adolescents with CF. This stresses the value of regular exercise testing for assessing prognosis in adolescents with CF.

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Section: Discussionsupporting

confidence: 90%

“…KAPLAN et al [13] compared two groups of patients who were either homozygous (n510) or heterozygous (n520) for the DF508 mutation. The study was limited by its small sample size.…”

Section: Discussionmentioning

confidence: 99%

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Chronic infection and inflammation affect exercise capacity in cystic fibrosis

Leeuwen¹,

Slieker²,

Hulzebos³

et al. 2011

Eur Respir J

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“…However, less is known about the effects of genotype on physical performance. Kaplan and colleagues did not find differences in nutritional status and exercise performance between adolescents who were homozygous and heterozygous for the ΔF508 mutation (Kaplan et al, 1996). The results of their study were limited by the relatively small number of subjects (N = 35).…”

Section: Discussionmentioning

confidence: 92%

“…Adolescents with moderate lung disease associated with cystic fibrosis, and at least one copy of the ΔF508 mutation, have been shown to have lower exercise capacity based on cystic fibrosis transmembrane regulator mutation class compared to those with non-ΔF508 genotypes (Selvadurai, McKay, Blimkie, Cooper, Mellis, & Van Asperen, 2002). In another study, no significant differences were found in exercise capacity between adolescents who were homozygous or heterozygous for the ΔF508 gene mutation (Kaplan, Moccia-Loos, Rabin, & McKey, 1996). The influence of ΔF508 status on these outcome measures in the preadolescent population has not been explored.…”

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confidence: 98%

CLINICAL AND GENETIC CORRELATES OF EXERCISE PERFORMANCE IN YOUNG CHILDREN WITH CYSTIC FIBROSIS^1,2

McBRIDE¹,

SCHALL²,

ZEMEL³

et al. 2010

Perceptual and Motor Skills

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SummaryExercise performance in individuals with cystic fibrosis has been shown to be related to the degree of pulmonary dysfunction and undernutrition and genetic profile. The aim of this study was to examine these relationships in young children with cystic fibrosis. The participants were 64 children ages 8 to 11 years (M = 9.3, SD = 0.9) with cystic fibrosis and pancreatic insufficiency recruited from 13 different U.S. Cystic Fibrosis Centers. Assigned to one of three groups by ΔF508 status: ΔF508/ΔF508 homozygous, ΔF508/Other heterozygous, and Other/Other, growth, nutritional and pulmonary status, and exercise performance were measured. Differences in exercise performance, pulmonary function, and nutritional status were not observed among the three groups. However, undernutrition and decreased pulmonary function were associated with measures of exercise performance. These results imply no effect of ΔF508 status on overall functional capacity during preadolescence in children with cystic fibrosis. Rather, the degree of pulmonary disease and undernutrition were associated with functional performance. Keywords aerobic capacity; pulmonary disease; ΔF508; nutritional status Since the identification of the genetic defect that causes cystic fibrosis, investigators have worked to correlate genotype with the clinical consequences

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Oxygen saturation in adult cystic fibrosis patients during exercise at high altitude

Ryujin

Mannebach²,

Samuelson

et al. 2001

Pediatric Pulmonology

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The objective of this study was to determine the frequency and severity of decreased arterial oxy-hemoglobin saturation during exercise in adults with cystic fibrosis at 1,500 m above sea level. A convenience sample of 50 adults with cystic fibrosis who did not have hypoxemia (oxygen saturation,< 90%) at rest were evaluated. Spirometry was performed according to American Thoracic Society standards, and maximal exercise tests were performed on an electronically braked cycle ergometer using a ramp protocol individualized for each patient. Pulse oximetry was measured every 2 min. When exercising at high altitude, 45 of 50 patients had a decrease in arterial oxy-hemoglobin saturation from baseline to some degree. In 29 patients, oxy-hemoglobin saturation fell below 90%; in 14 patients, it fell below 85%; and in 4 patients, it fell below 80%. Oxy-hemoglobin saturation decreased to < 90% in 12 of 14 patients with severe pulmonary disease (FEV(1) < 40% predicted), in 15 of 26 patients with moderate disease (40% less than or equal to FEV(1) < 70% predicted), in 2 of 6 patients with mild disease (70% less than or equal to FEV(1) < 90% predicted), and in 0 of 4 with normal pulmonary function (FEV(1) greater than or equal to 90%). Percent predicted FEV(1) (r = 0.57; P < 0.0001) and FEV(1)/FVC ratio (r = 0.52; P < 0.0001) most highly correlated with arterial oxy-hemoglobin saturation at peak exercise. We conclude that at 1,500 m above sea level, adult CF patients with obstructive airways disease are at significant risk for decreased arterial oxy-hemoglobin saturation during exercise. A supervised exercise test should be considered prior to recommending an exercise program for such patients.

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Lack of Effect of Delta F508 Mutation on Aerobic Capacity in Patients with Cystic Fibrosis

Cited by 12 publications

References 0 publications

Chronic infection and inflammation affect exercise capacity in cystic fibrosis

Chronic infection and inflammation affect exercise capacity in cystic fibrosis

CLINICAL AND GENETIC CORRELATES OF EXERCISE PERFORMANCE IN YOUNG CHILDREN WITH CYSTIC FIBROSIS^1,2

Oxygen saturation in adult cystic fibrosis patients during exercise at high altitude

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Lack of Effect of Delta F508 Mutation on Aerobic Capacity in Patients with Cystic Fibrosis

Cited by 12 publications

References 0 publications

Chronic infection and inflammation affect exercise capacity in cystic fibrosis

Chronic infection and inflammation affect exercise capacity in cystic fibrosis

CLINICAL AND GENETIC CORRELATES OF EXERCISE PERFORMANCE IN YOUNG CHILDREN WITH CYSTIC FIBROSIS1,2

Oxygen saturation in adult cystic fibrosis patients during exercise at high altitude

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Resources

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CLINICAL AND GENETIC CORRELATES OF EXERCISE PERFORMANCE IN YOUNG CHILDREN WITH CYSTIC FIBROSIS^1,2