title: Advances in the diagnosis and treatment of cystic fibrosis.
abstract: CF is a genetic, life-shortening, multisystem disease that is most commonly diagnosed through newborn screen performed in all 50 states in the United States. In the past, therapies for CF lung disease have primarily targeted the downstream effects of a dysfunctional CFTR protein. Newer CFTR modulator therapies, targeting the basic defect in CF, are available for a limited group of people with CF, and offer the hope of improved treatment options for many more people with CF in the near future. Best practice is directed by consensus clinical care guidelines from the CFF and is provided with a multidisciplinary approach by the team at the CF care center and the primary care office.
authors.affiliation: Department of Pediatrics, Children's Hospital Colorado, University of Colorado Denver, 13123 East 16th Avenue, B-395, Aurora, CO 80045, USA. Electronic address: stacey.martiniano@childrenscolorado.org.
authors.forename: Stacey L
authors.initials: SL
authors.lastname: Martiniano
authors.affiliation: Department of Pediatrics, Children's Hospital Colorado, University of Colorado Denver, 13123 East 16th Avenue, B-395, Aurora, CO 80045, USA.
authors.forename: Jordana E
authors.initials: JE
authors.lastname: Hoppe
authors.affiliation: Department of Pediatrics, Children's Hospital Colorado, University of Colorado Denver, 13123 East 16th Avenue, B-395, Aurora, CO 80045, USA.
authors.forename: Scott D
authors.initials: SD
authors.lastname: Sagel
authors.affiliation: Department of Pediatrics, Children's Hospital Colorado, University of Colorado Denver, 13123 East 16th Avenue, B-395, Aurora, CO 80045, USA.
authors.forename: Edith T
authors.initials: ET
authors.lastname: Zemanick
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism*; D004252:DNA Mutational Analysis; D019468:Disease Management; D005819:Genetic Markers; D060005:Genotyping Techniques; D006801:Humans; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Bronchiectasis; CFTR; CFTR modulators; Cystic fibrosis; Ivacaftor; Newborn screen