Nutrional status and dietary factors in cystic fibrosis patients with delta F508 mutation

Abstract

Objective To examine the association between nutritional status and dietary factors in children and adolescents with cystic fibrosis that are carriers of delta F508 mutation. Methods Cross-sectional study of cystic fibrosis children and adolescents. Nutritional status (body mass index percentile) and dietary intake (3-day diet records presented as a percentage of estimated energy requirement) were assessed. Results Thirty six patients (median of 8.6; interquartile range 6.8-12.5 years; 50% male). The Poisson regression analysis showed that the carriers for delta F508 mutation had 60% lower prevalence ratio of body mass index ≥25° (PR=0.4; 95%IC=0.2-0.8) and 90% lower prevalence ratio (PR=0.1; confidence interval 95%IC=0.02-0.3) of ≥150% of estimated energy requirement when compared with non-delta F508 mutation carriers. The model was adjusted for lung function, estimated energy requirement, and body mass index. Conclusion Carriers for delta F508 mutation showed lower body mass index percentile and lower daily caloric consumption when compared with patients without this mutation.

Molecular Heterogeneity in Cystic Fibrosis

“…Santos et al reported a total percentage of 75% Phe508del pathogenic variants in 36 CF patients; of which 27.7% were homozygous and 47.3% were heterozygous. 21 Similarly, homozygous and heterozygous Phe508del pathogenic variant rates were reported as 53 and 39%, respectively, in a study by Gangell et al analyzing 215 children diagnosed with CF. 12 MacKenzie et al reported 46.4% homozygous and 39.3% heterozygous Phe508del pathogenic variants among their patients reached several 26,000 in 2010 from the multicenter research that was conducted between 2000 and 2016 in collaboration with 110 CF institutions.…”

Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF

“…Individuals homozygous for F508del typically present with earlier and more severe respiratory complications and have earlier mortality ( Johansen et al, 1991 ; De Braekeleer et al, 1997 a; Mackenzie et al, 2014 ; Keogh et al, 2018 ). Most F508del homozygotes have exocrine pancreatic insufficiency but the effect of this genotype on weight and body mass index is controversial ( Lanng et al, 1991 ; Santos and Steemburgo, 2015 ; Leung et al, 2020 ; Medza et al, 2021 ). Homozygotes for F508del also have impaired glucose tolerance and a higher risk of cystic fibrosis-related diabetes (CFRD) ( Hamdi et al, 1993 ; Street et al, 2012 ).…”