Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Farrell, Philip M.; Rosenstein, Beryl J.; White, Terry B.; Accurso, Frank J.; Castellani, Carlo; Cutting, Garry R.; Durie, Peter R.; LeGrys, Vicky A.; Massie, John; Parad, Richard B.; Rock, Michael J.; Campbell, Preston W.

doi:10.1016/j.jpeds.2008.05.005

Cited by 957 publications

(952 citation statements)

References 68 publications

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“…Moreover, a trial of zinc supplementation (1 mg of elemental zinc/kg per day in divided doses for 6 mo) is recommended in those who are not adequately growing despite adequate caloric intake and pancreatic enzyme replacement therapy (4). There are no clearcut recommendations for monitoring of and supplementation with other micronutrients (such as iron, copper, and selenium).…”

Section: Discussionmentioning

confidence: 99%

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Evaluation of micronutrient profile of North Indian children with cystic fibrosis: a case–control study

et al. 2014

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Background: Data on the micronutrient levels in children with cystic fibrosis (CF) are not available from developing countries, wherein the nutritional profile of children is quite different from that of Western countries. Methods: Levels of fat-soluble vitamins (A, D, and E) and trace metals (iron, copper, and zinc) were measured in 27 CF cases and 27 controls. results: CF cases had significantly low levels of all studied micronutrients compared with controls, and the levels were even lower in cases with exacerbation than in stable CF cases. Prevalence of deficiency of vitamin D, vitamin E, iron, copper, and zinc was significantly higher in cases than in controls, whereas vitamin A deficiency was almost equal in both the groups. conclusion: The prevalence of deficiency of vitamins A, D, and E and iron, copper, and zinc was high in CF cases, and their levels were significantly lower in cases than controls. CF cases should be regularly monitored for these micronutrients, and appropriate supplementation should be considered.

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Section: Discussionmentioning

confidence: 99%

“…CF is caused by mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and ~2,000 sequence variants have been identified, of which ∆F508 is the predominant mutation (2,(4)(5)(6).…”

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confidence: 99%

Evaluation of micronutrient profile of North Indian children with cystic fibrosis: a case–control study

et al. 2014

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“…Patients were eligible for inclusion if they were 6-11 years of age at screening; had a confirmed diagnosis of CF (13); had the G551D-CFTR mutation on at least one allele; had an FEV 1 of 40-105% of the predicted value for persons of their age, sex, and height (14); and had a body weight greater than or equal to 15 kg. Patients were randomly assigned in a 1:1 ratio to receive ivacaftor at a dose of 150 mg every 12 hours or matched placebo for 48 weeks.…”

Section: Study Patientsmentioning

confidence: 99%

Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation

Davies

Wainwright

Canny

et al. 2013

Am J Respir Crit Care Med

458

386

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Rationale: Ivacaftor (VX-770), a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, has been shown to improve lung function, pulmonary exacerbation rate, respiratory symptoms, and weight gain compared with placebo in patients with cystic fibrosis aged 12 years or older with a G551D-CFTR mutation. Objectives: This randomized, double-blind, placebo-controlled trial evaluated ivacaftor in patients with cystic fibrosis aged 6-11 years with a G551D-CFTR mutation on at least one allele. Methods: Patients were randomly assigned to receive ivacaftor administered orally at 150 mg (n ¼ 26) or placebo (n ¼ 26) every 12 hours for 48 weeks in addition to existing prescribed cystic fibrosis therapies. Measurements and Main Results: Despite near-normal mean baseline values in FEV 1 , patients receiving ivacaftor had a significant increase in percent predicted FEV 1 from baseline through Week 24 versus placebo group (treatment effect, 12.5 percentage points; P , 0.001). Effects on pulmonary function were evident by 2 weeks, and a significant treatment effect was maintained through Week 48. Patients treated with ivacaftor gained, on average, 2.8 kg more than those receiving placebo at Week 48 (P , 0.001). The change from baseline through Week 48 in the concentration of sweat chloride, a measure of CFTR activity, with ivacaftor was 253.5 mmol/L (P , 0.001) versus placebo. The incidence of adverse events was similar in the two groups. Conclusions: In patients who are younger and healthier than those in previously studied populations, ivacaftor demonstrated a significant improvement in pulmonary function, weight, and CFTR activity compared with placebo. Clinical trial registered with www.clinicaltrials.gov (NCT00909727).

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“…Mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR/ABCC7; MIM #602421) induce a wide spectrum of clinical phenotypes from classic CF characterized by pancreatic insufficiency and positive sweat chloride values, to milder forms of the disease with pancreatic sufficiency, to CFTR related disorders (CFTR-RDs), where a diagnosis of CF cannot be established because the individual does not meet standard diagnostic criteria (Farrell et al 2008;Castellani et al 2008). …”

mentioning

confidence: 99%

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

et al. 2011

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Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Cited by 957 publications

References 68 publications

Evaluation of micronutrient profile of North Indian children with cystic fibrosis: a case–control study

Evaluation of micronutrient profile of North Indian children with cystic fibrosis: a case–control study

Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

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