Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome

Clement L Ren, Harsh Desai, Mary Platt, Marissa Dixon

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An unavoidable outcome of cystic fibrosis newborn screening (CF NBS) programs is the detection of infants with an indeterminate diagnosis. The United States CF Foundation recently proposed the term cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) to describe infants with elevated immunoreactive trypsinogen (IRT) on NBS who do not meet diagnostic criteria for CF. The objective of this study was to describe the clinical outcomes of infants with CRMS identified through an IRT/DNA algorithm. We reviewed the records of all infants with CRMS diagnosed at our CF Center from 2002 to 2010. We identified 12 infants, and compared them to 27 infants diagnosed with CF by NBS. Compared to CF patients, CRMS patients were more likely to be pancreatic sufficient as assessed by fecal elastase measurement (100% vs. 8%, P 
Original languageEnglish
Pages (from-to)1079-84
Number of pages6
JournalPediatric Pulmonology
Issue number11
Publication statusPublished - Nov 2011


  • Anti-Bacterial Agents
  • Child, Preschool
  • Chlorides
  • Cystic Fibrosis
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Feces
  • Female
  • Hospitalization
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Metabolic Syndrome X
  • Monitoring, Physiologic
  • Neonatal Screening
  • Oropharynx
  • Pancreatic Elastase
  • Pseudomonas Infections
  • Pseudomonas aeruginosa
  • Respiratory Tract Infections
  • Retrospective Studies
  • Sweat
  • Trypsinogen

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