title: Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome.
abstract: 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 < 0.01). Their weight for age percentile was normal from birth. A positive oropharyngeal (OP) culture for Pseudomonas aeruginosa (Pa) was found in 25% of CRMS patients. One patient with the F508del/R117H/7T genotype was reassigned the diagnosis of CF after he had a positive OP culture for Pa, and his follow up sweat Cl at 1 year of life was 73 mmol/L. CF patients were more likely to receive oral antibiotics and be hospitalized for pulmonary symptoms. Our results indicate that CRMS patients can develop signs of CF disease, but have a milder clinical course than CF infants. Close initial monitoring of these patients is warranted. Pediatr. Pulmonol. 2011; 46:1079-1084. © 2011 Wiley Periodicals, Inc.
authors.affiliation: Division of Pediatric Pulmonology, School of Medicine and Dentistry, University of Rochester, Rochester, New York, USA. clement_ren@urmc.rochester.edu
authors.forename: Clement L
authors.initials: CL
authors.lastname: Ren
authors.forename: Harsh
authors.initials: H
authors.lastname: Desai
authors.forename: Mary
authors.initials: M
authors.lastname: Platt
authors.forename: Marissa
authors.initials: M
authors.lastname: Dixon
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002675:Child, Preschool; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005243:Feces / Q000201:enzymology; D005260:Female; D006760:Hospitalization / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D024821:Metabolic Syndrome / Q000175:diagnosis* / Q000235:genetics; D008991:Monitoring, Physiologic; D015997:Neonatal Screening; D009960:Oropharynx / Q000382:microbiology; D010196:Pancreatic Elastase / Q000032:analysis; D011552:Pseudomonas Infections / Q000175:diagnosis; D011550:Pseudomonas aeruginosa / Q000302:isolation & purification; D012141:Respiratory Tract Infections / Q000188:drug therapy / Q000453:epidemiology; D012189:Retrospective Studies; D013542:Sweat / Q000737:chemistry; D014362:Trypsinogen / Q000097:blood
chemical_list: D000900:Anti-Bacterial Agents; C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen; D010196:Pancreatic Elastase