Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond

Drucy Borowitz, Richard B. Parad, Jack K. Sharp, Kathryn A. Sabadosa, Karen A. Robinson, Michael J. Rock, Philip M. Farrell, Marci K. Sontag, Margaret Rosenfeld, Stephanie Davis, Bruce C. Marshall, Frank J. Accurso

Research output: Contribution to journalArticle

114 Citations (Scopus)

Abstract

Through early detection, newborn screening (NBS)1 for cystic fibrosis (CF) offers the opportunity for early intervention and improved outcomes. NBS programs screen for hypertrypsinogenemia, and most also identify mutations in the CF transmembrane conductance regulator (CFTR) gene. Individuals identified by NBS are diagnosed with CF if they have an elevated sweat chloride level or if they have inherited 2 disease-causing mutations in the CFTR gene. Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values

Original languageEnglish (US)
Pages (from-to)106-116
Number of pages11
JournalJournal of Pediatrics
Volume155
Issue number6 SUPPL.
StatePublished - Dec 2009
Externally publishedYes

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Cystic Fibrosis Transmembrane Conductance Regulator
Practice Management
Practice Guidelines
Cystic Fibrosis
Regulator Genes
Newborn Infant
Mutation
Sweat
Chlorides

ASJC Scopus subject areas

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

Cite this

Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. / Borowitz, Drucy; Parad, Richard B.; Sharp, Jack K.; Sabadosa, Kathryn A.; Robinson, Karen A.; Rock, Michael J.; Farrell, Philip M.; Sontag, Marci K.; Rosenfeld, Margaret; Davis, Stephanie; Marshall, Bruce C.; Accurso, Frank J.

In: Journal of Pediatrics, Vol. 155, No. 6 SUPPL., 12.2009, p. 106-116.

Research output: Contribution to journalArticle

Borowitz, D, Parad, RB, Sharp, JK, Sabadosa, KA, Robinson, KA, Rock, MJ, Farrell, PM, Sontag, MK, Rosenfeld, M, Davis, S, Marshall, BC & Accurso, FJ 2009, 'Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond', Journal of Pediatrics, vol. 155, no. 6 SUPPL., pp. 106-116.
Borowitz, Drucy ; Parad, Richard B. ; Sharp, Jack K. ; Sabadosa, Kathryn A. ; Robinson, Karen A. ; Rock, Michael J. ; Farrell, Philip M. ; Sontag, Marci K. ; Rosenfeld, Margaret ; Davis, Stephanie ; Marshall, Bruce C. ; Accurso, Frank J. / Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. In: Journal of Pediatrics. 2009 ; Vol. 155, No. 6 SUPPL. pp. 106-116.
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