Abstract
Newborn screening of cystic fibrosis, a severe genetic disease with high treatment burden, is offered in all of North America with the exception of the province of Quebec. This condition, when diagnosed on symptomatic presentation, is marked by chronic infections and progressive lung function decline leading to eventual respiratory failure. Patients continue to have a median age of survival notably below the Canadian average. Despite prevalence rates of cystic fibrosis almost three times the national average in certain regions of Quebec, the province still does not offer screening to its newborns. However, the results of newly published research comparing patients from Quebec with those of other provinces has shown that screening is associated with better nutritional status and overall growth, lower hospitalization rates as well as fewer episodes of infection, hence contributing to the prevention of lung damage in the long term. This research appears to confirm the benefits and pertinence of implementing a neonatal screening program for patients with cystic fibrosis in the province.
Key Words: Cystic fibrosis, neonatal screening, respiratory insufficiency, quality of life
Résumé
Le dépistage néonatal de la fibrose kystique, une maladie à forte charge de morbidité, est offert partout en Amérique du Nord sauf au Québec. Diagnostiquée une fois l’apparition de symptômes, cette maladie est caractérisée par des infections chroniques et un déclin de la fonction respiratoire menant à une éventuelle insuffisance respiratoire. Malgré un taux de prévalence jusqu’à trois fois plus élevé que la moyenne canadienne, la province n’a toujours pas de programme de dépistage de la fibrose kystique pour ses nouveaux-nés. Cependant, une nouvelle étude comparant les patients du Québec à ceux d’autres provinces au pays démontre que le dépistage est associé à de meilleurs états nutritionnels et niveaux de croissance ainsi qu’à de plus bas taux d’hospitalisations et d’infections, contribuant à prévenir la détérioration pulmonaire au fil des années. Ainsi, cette étude semble confirmer les bénéfices et la pertinence de l’implantation d’un programme de dépistage néonatal pour la fibrose kystique dans la province.
Mots Clés: fibrose kystique, dépistage neonatal, insuffisance respiratoire, qualité de vie
Footnotes
Acknowledgements: My thanks to Dr. Faisca Richer for her comments and suggestions for improvement of earlier versions of this paper.
Conflict of Interest: None to declare.
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