Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)

Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is an effective strategy for the early recognition of infants with a CF diagnosis. Some infants with a positive NBS result for CF have an inconclusive diagnosis and evidence suggests the number of these infants is increasing, as more extensi...

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Autores principales:	Aditi Sinha, Kevin W. Southern
Formato:	article
Lenguaje:	EN
Publicado:	European Respiratory Society 2021
Materias:	Diseases of the respiratory system RC705-779
Acceso en línea:	https://doaj.org/article/3517d47adcba4f58b4ead0de31342077
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spelling	oai:doaj.org-article:3517d47adcba4f58b4ead0de313420772021-11-24T07:45:28ZCystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)1810-68382073-473510.1183/20734735.0088-2021https://doaj.org/article/3517d47adcba4f58b4ead0de313420772021-09-01T00:00:00Zhttp://breathe.ersjournals.com/content/17/3/210088.fullhttps://doaj.org/toc/1810-6838https://doaj.org/toc/2073-4735Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is an effective strategy for the early recognition of infants with a CF diagnosis. Some infants with a positive NBS result for CF have an inconclusive diagnosis and evidence suggests the number of these infants is increasing, as more extensive gene analysis is integrated into screening protocols. There is an internationally agreed, but complex, designation for infants with an unclear diagnosis after a positive screening result: cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). Infants with a CRMS/CFSPID designation have no clinical evidence of disease and do not meet the criteria for a CF diagnosis, but the NBS result indicates some risk of developing CF or a CFTR-related disorder. In this review, we describe the accurate designation of these and reflect on emerging management pathways, with particular attention given to clear and consistent communication. Educational aims To clarify the definition of the global harmonised designation: cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/cystic fibrosis screen positive, inconclusive diagnosis (CFSPID). To understand what impact a CRMS/CFSPID result has for the patient and their family.Aditi SinhaKevin W. SouthernEuropean Respiratory SocietyarticleDiseases of the respiratory systemRC705-779ENBreathe, Vol 17, Iss 3 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the respiratory system RC705-779
spellingShingle	Diseases of the respiratory system RC705-779 Aditi Sinha Kevin W. Southern Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
description	Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is an effective strategy for the early recognition of infants with a CF diagnosis. Some infants with a positive NBS result for CF have an inconclusive diagnosis and evidence suggests the number of these infants is increasing, as more extensive gene analysis is integrated into screening protocols. There is an internationally agreed, but complex, designation for infants with an unclear diagnosis after a positive screening result: cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). Infants with a CRMS/CFSPID designation have no clinical evidence of disease and do not meet the criteria for a CF diagnosis, but the NBS result indicates some risk of developing CF or a CFTR-related disorder. In this review, we describe the accurate designation of these and reflect on emerging management pathways, with particular attention given to clear and consistent communication. Educational aims To clarify the definition of the global harmonised designation: cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/cystic fibrosis screen positive, inconclusive diagnosis (CFSPID). To understand what impact a CRMS/CFSPID result has for the patient and their family.
format	article
author	Aditi Sinha Kevin W. Southern
author_facet	Aditi Sinha Kevin W. Southern
author_sort	Aditi Sinha
title	Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
title_short	Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
title_full	Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
title_fullStr	Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
title_full_unstemmed	Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
title_sort	cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (crms/cfspid)
publisher	European Respiratory Society
publishDate	2021
url	https://doaj.org/article/3517d47adcba4f58b4ead0de31342077
work_keys_str_mv	AT aditisinha cysticfibrosistransmembraneconductanceregulatorrelatedmetabolicsyndromecysticfibrosisscreenpositiveinconclusivediagnosiscrmscfspid AT kevinwsouthern cysticfibrosistransmembraneconductanceregulatorrelatedmetabolicsyndromecysticfibrosisscreenpositiveinconclusivediagnosiscrmscfspid
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Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)

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