Why Do We Screen Newborn Infants for Cystic Fibrosis?
Jürg Barben1, Kevin W Southern2
1Division of Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland.
International Journal of Neonatal Screening
|October 30, 2020
Abstract
No abstract available in PubMed .
More Related Videos
Related Concept Videos
Cystic Fibrosis: Pathogenesis
589
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
589
Cystic Fibrosis: Management
326
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
326


