title: Cystic fibrosis infant care challenges in diagnosis and management in the era of newborn screening.
abstract: With newborn screening for cystic fibrosis (CF) now accessible in every state in the US, more infants are being diagnosed. Currently, no large-scale randomized studies are available to assist clinicians in providing evidence-based medical care for the youngest CF patients. We review the standard of diagnostic evaluation, the sweat test, showing a slightly altered range for infants less than 6 months of age. Cystic fibrosis transmembrane conductance regulator (CFTR) metabolic syndrome is an entity that can be clinically challenging for parents and caregivers. Simply indentifying infants with CF can be challenging. This review tries to clarify the CFTR gene and its expressions and the additional benefits that may be drawn from newborn screening. We searched literature to review guidelines for care of infants with CF, and we reviewed newborn screening methods and diagnosis. We focused on early nutritional intervention and lung protective strategies to improve growth and lung function outcomes.
authors.affiliation: Division of Pulmonology, Nemours/A.I. duPont Hospital for Children, Wilmington, Del., USA.
authors.forename: Raj
authors.initials: R
authors.lastname: Padman
authors.forename: Kristina
authors.initials: K
authors.lastname: Flathers
authors.forename: Vandna
authors.initials: V
authors.lastname: Passi
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003850:Deoxyribonuclease I / Q000627:therapeutic use; D018450:Disease Progression; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D017410:Practice Guidelines as Topic; D013542:Sweat / Q000737:chemistry*
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C085693:DNASE1 protein, human; D003850:Deoxyribonuclease I