DeltaF508 CFTR Hetero- and Homozygous Paediatric Patients with Cystic Fibrosis Do Not Differ with Regard to Nutritional Status

Mędza, Aleksandra; Kaźmierska, Katarzyna; Wielgomas, Bartosz; Konieczna, Lucyna; Olędzka, Ilona; Szlagatys-Sidorkiewicz, Agnieszka; Sznurkowska, Katarzyna

doi:10.3390/nu13051402

Cited by 4 publications

(3 citation statements)

References 45 publications

(55 reference statements)

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“…In another study, Medza et al compared people with CF who were either heterozygous or homozygous for Phe508del [ 46 ]. They demonstrated that the serum vitamins and erythrocyte membrane fatty acid profiles were the same in both groups, except for heptadecanoic acid.…”

Section: Effect Of Genotypementioning

confidence: 99%

Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex

et al. 2022

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Adequate intake of nutrients such as essential fatty acids (EFA) are critical in cystic fibrosis (CF). The clinical course of deterioration of lung function in people with CF has been shown to relate to nutrition. Independent of the higher energy consumption and malabsorption due to pancreatic insufficiency, EFA deficiency is closely associated with the risk of pulmonary infection, the most significant pathology in CF. This review will focus on the EFA deficiency identified in people with CF, as well as the limited progress made in deciphering the exact metabolic pathways that are dysfunctional in CF. Specifically, people with CF are deficient in linoleic acid, an omega 6 fatty acid, and the ratio of arachidonic acid (omega 6 metabolite) and docosahexaenoic acid (omega 3 metabolite) is increased. Analysis of the molecular pathways in bronchial cells has identified changes in the enzymes that metabolise EFA. However, fatty acid metabolism primarily occurs in the liver, with EFA metabolism in CF liver not yet investigated, indicating that further research is required. Despite limited understanding in this area, it is well known that adequate EFA concentrations are critical to normal membrane structure and function, and thus are important to consider in disease processes. Novel insights into the relationship between CF genotype and EFA phenotype will be discussed, in addition to sex differences in EFA concentrations in people with CF. Collectively, investigating the specific effects of genotype and sex on fatty acid metabolism may provide support for the management of people with CF via personalised genotype- and sex-specific nutritional therapies.

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Section: Effect Of Genotypementioning

confidence: 99%

Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex

et al. 2022

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“…This outcome is contrary to a comparative study between compound heterozygous and homozygous ∆F508 CFTR pediatric patients. It was observed that the nutritional parameters studied (fat-soluble vitamins, fatty acid profile, weight, height, and BMI) did not differ [24]. Even though genotype did not predict individual nutritional phenotype, based on the molecular phenotypic complexity of CFTR mutants and their susceptibility to pharmacotherapy, mutations may impose combinatorial defects in CFTR channel biology that must be considered [25].…”

Section: Clinical Statusmentioning

confidence: 98%

Calcium, Phosphorus, and Vitamin D Levels in a Series of Cystic Fibrosis Patients: A Cross-Sectional Study

Escobedo-Monge,

Marcos-Temprano,

Parodi-Román

et al. 2024

IJMS

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Cystic fibrosis (CF) is a monogenic disease with different types of mutations that mainly affect the respiratory-digestive system. Calcium (Ca), phosphorus (P), and vitamin D (Vit-D) are essential nutrients for maintaining adequate growth and development, as well as key components in crucial metabolic pathways. Proper diagnosis, treatment, and response are decisive components of precision medicine. Therefore, we conducted a cross-sectional study to evaluate Ca, P, and Vit-D levels along with health and nutritional indicators, regarding their non-skeletal functions, in a series of CF patients. Anthropometric and clinical evaluation, biochemical analysis, dietary survey, and respiratory and pancreatic status were performed. Even though the results showed that all patients had normal dietary and serum Ca levels, 47% of patients had deficient Vit-D intake, 53% of patients had hypovitaminosis D, 35% had insufficient Vit-D levels, 18% had hypophosphatemia, 76% had elevated alkaline phosphate levels, 29% had hypercalciuria, and 65% had hyperphosphaturia. There were no significant differences between homozygous and compound heterozygous patients. Ca, P, and Vit-D levels were associated with body mass index; body composition; physical activity; diet; growth hormones; and the immune, liver, and kidney systems. We suggest a periodically evaluation of Ca and P losses.

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“…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 ).…”

Section: Introductionmentioning

confidence: 99%

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

Bélanger,

Bonhoure,

Kherani

et al. 2024

Genet. Mol. Biol.

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People living with cystic fibrosis (pwCF) homozygous for F508del present more severe phenotypes. PwCF with compound heterozygous genotypes F508del /A455E and F508del /L206W may have milder cystic fibrosis (CF) phenotypes. We compared F508del homozygotes and common compound heterozygotes (F508del and a second pathogenic variant) in adult patients. Nutritional, pulmonary function and glucose homeostasis indices data were collected from the prospective Montreal CF cohort. Two-hundred and three adults with CF having at least one F508del variant were included. Individuals were divided into subgroups: homozygous F508del/F508del (n=149); F508del/621+1G>T (n=17); F508del/711+1G>T (n=11); F508del/A455E (n=12); and F508del/L206W (n=14). Subgroups with the F508del/L206W and F508del/A455E had a lower proportion with pancreatic exocrine insufficiency (p<0.0001), a higher fat mass (p<0.0001), and lower glucose area under the curve (AUC) (p=0.027). The F508del/L206W subgroup had significantly higher insulin secretion (AUC; p=0.027) and body mass index (p<0.001). Pulmonary function (FEV1) was significantly higher for the F508del/L206W subgroup (p<0.0001). Over a median of 7.37 years, the risk of developing CFRD in 141 patients was similar between groups. PwCF with heterozygous F508del/L206W and F508del/A455E tended to have pancreatic exocrine sufficiency, better nutritional status, improved pulmonary function and better diabetogenic indices, but this does not translate into lower risk of CF-related Diabetes.

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DeltaF508 CFTR Hetero- and Homozygous Paediatric Patients with Cystic Fibrosis Do Not Differ with Regard to Nutritional Status

Cited by 4 publications

References 45 publications

Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex

Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex

Calcium, Phosphorus, and Vitamin D Levels in a Series of Cystic Fibrosis Patients: A Cross-Sectional Study

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

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