Article
Cystic fibrosis.
Lancet (London, England) - 5 Jun 2021
Shteinberg Michal, Haq Iram J, Polineni Deepika, Davies Jane C
Abstract excerpt
Cystic fibrosis is a monogenic disease considered to affect at least 100 000 people worldwide. Mutations in CFTR, the gene encoding the epithelial ion channel that normally transports chloride and bicarbonate, lead to impaired mucus hydration and clearance. Classical cystic fibrosis is thus characterised by chronic pulmonary infection and inflammation, pancreatic exocrine insufficiency, male infertility, and...
Topics
- Bicarbonates
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Disease Management
- Exocrine Pancreatic Insufficiency
- Genetic Therapy
- Humans
- Life Expectancy
- Mucociliary Clearance
- Mutation