Cystic fibrosis

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

• CF is a commonly diagnosed genetic disease caused by disruption of cellular chloride transport through abnormal function of the CFTR gene protein. • CF may affect multiple organ systems severely, leading to chronic sinopulmonary infections, impairment of growth, liver disease, and diabetes. • Positive CF NBS identifies children at risk for the diagnosis of CF and always requires additional confirmatory testing with sweat chloride or genetic testing. • Primary therapies in CF focus on methods to promote airway clearance of mucus, suppression of bacterial growth, and optimization of nutritional status. • The prognosis for individuals born with CF continues to improve markedly over time through coordinated use of early and aggressive therapies toward common complications.

Original languageEnglish
Pages (from-to)302-310
Number of pages9
JournalPediatrics in Review
Volume30
Issue number8
DOIs
StatePublished - Aug 2009

Fingerprint

Cystic Fibrosis
Chlorides
Cystic Fibrosis Transmembrane Conductance Regulator
Inborn Genetic Diseases
Sweat
Genetic Testing
Mucus
Growth
Secondary Prevention
Nutritional Status
Liver Diseases
Infection
Proteins
Therapeutics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Cystic fibrosis. / Montgomery, Gregory; Howenstine, Michelle.

In: Pediatrics in Review, Vol. 30, No. 8, 08.2009, p. 302-310.

Research output: Contribution to journalArticle

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