Novel insights into the diagnostic and therapeutic challenges of the CFTR metabolic syndrome/CF screen positive indeterminate diagnosis. (October 2016)

• Record Type: Journal Article
• Authors: Machogu, Evans; Ren, Clement L.
• Other Names: Borowitz Drucy guestEditor.; Murphy Thomas guestEditor.; Noah Terry guestEditor.; Turner Steven guestEditor.
• Is Part Of: Pediatric pulmonology. Volume 51(2016:Oct.)Supplement 44
• Page Start: S45
• Page End: S48
• Publication Date: 2016-10
• Subjects: cystic fibrosis -- newborn screening -- genetics -- epidemiology; Pediatric respiratory diseases -- Periodicals; Pediatrics -- Periodicals; 618.922
• DOI: 10.1002/ppul.23478
• Languages: English
• ISSNs: 8755-6863

Abstract

Summary: 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.