Article
Modeling cystic fibrosis disease progression in patients with the rare CFTR mutation P67L.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2017
MacKenzie Isobel E R, Paquette Valerie, Gosse Frances, George Sheenagh, Chappe Frederic, Chappe Valerie
Abstract excerpt
BACKGROUND: The progression of cystic fibrosis (CF) in patients with the rare mutation P67L was examined to determine if it induced a milder form of CF compared to the common severe ΔF508 mutation. METHODS: Parameters of lung function, level of bacterial infection, nutritional status and hospitalization were used to represent CF progression. Age at diagnosis and pancreatic status were used to assess CF...
Topics
- Adult
- Age Factors
- Bacterial Infections
- Canada
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Disease Progression
- Female
- Hospitalization
- Humans
- Infant
- Male
- Mutation
- Nutritional Status
- Registries
- Respiratory Function Tests
- Severity of Illness Index