Novel insights into the diagnostic and therapeutic challenges of the CFTR metabolic syndrome/CF screen positive indeterminate diagnosis

Evans Machogu; Clement L Ren

doi:10.1002/ppul.23478

Novel insights into the diagnostic and therapeutic challenges of the CFTR metabolic syndrome/CF screen positive indeterminate diagnosis

Pediatr Pulmonol. 2016 Oct;51(S44):S45-S48. doi: 10.1002/ppul.23478.

Authors

Evans Machogu¹, Clement L Ren²

Affiliations

¹ Section of Pediatric Pulmonology, Allergy, and Sleep Medicine, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana.
² Section of Pediatric Pulmonology, Allergy, and Sleep Medicine, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana. clren@iu.edu.

PMID: 27662103
DOI: 10.1002/ppul.23478

Abstract

The growth of cystic fibrosis newborn screening (CF NBS) has led to an increased number of infants with a positive NBS test but inconclusive CF diagnostic testing. In the USA this condition is called CFTR related metabolic syndrome (CRMS), while in Europe the term CF screen positive, inconclusive diagnosis (CFSPID) is used. Recent advances in CF genetics and epidemiologic studies of CRMS/CFSPID have provided new insights into the prevalence and outcomes associated with this condition. Pediatr Pulmonol. 2016;51:S45-S48. © 2016 Wiley Periodicals, Inc.

Keywords: cystic fibrosis; epidemiology; genetics; newborn screening.

Publication types

Review