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

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

doi:10.1002/ppul.21475

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

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

Research output: Contribution to journal › Article › peer-review

47 Citations (Scopus)

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

Original language	English
Pages (from-to)	1079-84
Number of pages	6
Journal	Pediatric Pulmonology
Volume	46
Issue number	11
DOIs	https://doi.org/10.1002/ppul.21475
Publication status	Published - Nov 2011

Keywords

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

Access to Document

10.1002/ppul.21475

Cite this

@article{ef749537f3de4f9fbe0a9e479570cbd2,

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 ",

keywords = "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",

author = "Ren, {Clement L} and Harsh Desai and Mary Platt and Marissa Dixon",

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year = "2011",

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AU - Desai, Harsh

AU - Platt, Mary

AU - Dixon, Marissa

PY - 2011/11

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N2 - 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

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KW - Feces

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KW - Hospitalization

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Metabolic Syndrome X

KW - Monitoring, Physiologic

KW - Neonatal Screening

KW - Oropharynx

KW - Pancreatic Elastase

KW - Pseudomonas Infections

KW - Pseudomonas aeruginosa

KW - Respiratory Tract Infections

KW - Retrospective Studies

KW - Sweat

KW - Trypsinogen

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