Cystic fibrosis in Canada: A historical perspective

Petruzziello-Pellegrini, Tania N.; Jeanneret, Alphonse; Montgomery, Mark; Rivard, Georges; Tullis, Elizabeth; Cantin, André M.

doi:10.1080/24745332.2018.1470910

Cited by 1 publication

(1 citation statement)

References 63 publications

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“…All data related to CFTR genotype were extracted from the Canadian Cystic Fibrosis Registry (2019 ). Measurements were all taken at the Hospital for Sick Children in Toronto ( Petruzziello-Pellegrini et al, 2021 ). Clinical data and oral glucose tolerance testing data (including serum glucose and insulin at fasted (T0) and 30 (T30), 60 (T60), 90 (T90) and 120 (T120) minutes post-glucose challenge) were collected for each individual, as previously described using a standardized glucose load (1.75 g/kg, to a maximum of 75g) ( Boudreau et al 2016 ).…”

Section: Methodsmentioning

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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Section: Methodsmentioning

confidence: 99%