title: 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.
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.
authors.affiliation: Women and Children's Hospital of Buffalo, State University of New York at Buffalo, Buffalo, NY, USA.
authors.forename: Drucy
authors.initials: D
authors.lastname: Borowitz
authors.forename: Richard B
authors.initials: RB
authors.lastname: Parad
authors.forename: Jack K
authors.initials: JK
authors.lastname: Sharp
authors.forename: Kathryn A
authors.initials: KA
authors.lastname: Sabadosa
authors.forename: Karen A
authors.initials: KA
authors.lastname: Robinson
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Rock
authors.forename: Philip M
authors.initials: PM
authors.lastname: Farrell
authors.forename: Marci K
authors.initials: MK
authors.lastname: Sontag
authors.forename: Margaret
authors.initials: M
authors.lastname: Rosenfeld
authors.forename: Stephanie D
authors.initials: SD
authors.lastname: Davis
authors.forename: Bruce C
authors.initials: BC
authors.lastname: Marshall
authors.forename: Frank J
authors.initials: FJ
authors.lastname: Accurso
mesh_terms: D000328:Adult; D000367:Age Factors; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D013577:Syndrome; D014362:Trypsinogen / Q000097:blood
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen