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 D. Davis, Bruce C. Marshall, Frank J. Accurso

Research output: Contribution to journalArticle

121 Scopus citations

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 <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF. With what is now near-universal CF NBS in the United States, an increasing number of infants with CRMS are being identified. Given our inadequate knowledge of the natural history ofCRMS, standards for diagnosis, monitoring, and treatment are absent. This document aims to help guide the monitoring and care of individuals with CRMS while our knowledge base on appropriate management evolves.

Original languageEnglish (US)
Pages (from-to)S106-S116
JournalJournal of Pediatrics
Volume155
Issue number6 SUPPL.
StatePublished - Dec 2009
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Borowitz, D., Parad, R. B., Sharp, J. K., Sabadosa, K. A., Robinson, K. A., Rock, M. J., Farrell, P. M., Sontag, M. K., Rosenfeld, M., Davis, S. D., Marshall, B. C., & Accurso, F. J. (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, 155(6 SUPPL.), S106-S116.