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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.
AuthorsStacey L Martiniano, Jordana E Hoppe, Scott D Sagel, Edith T Zemanick
JournalAdvances in pediatrics (Adv Pediatr) Vol. 61 Issue 1 Pg. 225-43 (Aug 2014) ISSN: 1878-1926 [Electronic] United States
PMID25037130 (Publication Type: Journal Article, Review)
Chemical References
  • CFTR protein, human
  • Genetic Markers
  • Cystic Fibrosis Transmembrane Conductance Regulator
Topics
  • Cystic Fibrosis (diagnosis, genetics, therapy)
  • Cystic Fibrosis Transmembrane Conductance Regulator (genetics, metabolism)
  • DNA Mutational Analysis
  • Disease Management
  • Genetic Markers
  • Genotyping Techniques
  • Humans
  • Mutation

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