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Adv Pediatr. 2014 Aug;61(1):225-43. doi: 10.1016/j.yapd.2014.03.002. Epub 2014 May 3.

Advances in the diagnosis and treatment of cystic fibrosis.

Author information

1
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.
2
Department of Pediatrics, Children's Hospital Colorado, University of Colorado Denver, 13123 East 16th Avenue, B-395, Aurora, CO 80045, USA.

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.

KEYWORDS:

Bronchiectasis; CFTR; CFTR modulators; Cystic fibrosis; Ivacaftor; Newborn screen

PMID:
25037130
DOI:
10.1016/j.yapd.2014.03.002
[Indexed for MEDLINE]

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