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Practice Guideline
. 2009 Dec;155(6 Suppl):S106-16.
doi: 10.1016/j.jpeds.2009.09.003.

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

Cystic Fibrosis Foundation  1 ; 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
Affiliations
Practice Guideline

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

Cystic Fibrosis Foundation et al. J Pediatr. 2009 Dec.

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 of CRMS, 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.

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Figures

Figure 1:
Figure 1:
Individuals who have CFTR-Related Metabolic Syndrome; based on the Figure from Farrell et al (2)
Figure 2:
Figure 2:
Management of Individuals with a Diagnosis of CFTR-Related Metabolic Syndrome
See this image and copyright information in PMC

References

    1. Borowitz D RK, Rosenfeld M, Davis S, Sabadosa K, Spear S, Michel S, White TB, Marshall B, Accurso FA. Cystic Fibrosis Foundation Evidence-Based Guidelines for Management of Infants with Cystic Fibrosis. Journal of Pediatrics 2009;current supplement. - PMC - PubMed
    1. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008;153(2):S4–S14. - PMC - PubMed
    1. Castellani C, Cuppens H, Macek M Jr., Cassiman JJ, Kerem E, Durie P, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008;7(3):179–96. - PMC - PubMed
    1. Miller J, Petrie J. Development of practice guidelines. Lancet 2000;355(9198):82- - PubMed
    1. http://is.njit.edu/pubs/delphibook/index.html#toc.

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