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When CFSPID becomes CF
•There are no standardized protocols or predictors of reclassification from CFSPID to CF.•We report a case series of 10 children who reclassified.•The increase in sweat chloride concentration with age may be associated with risk of reclassification.•CFTR functional assay may supplement sweat chlorid...
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Published in: | Journal of cystic fibrosis 2022-01, Vol.21 (1), p.e23-e27 |
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container_title | Journal of cystic fibrosis |
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creator | Ginsburg, Daniella Wee, Choo Phei Reyes, Maria Carmen Brewington, John J. Salinas, Danieli B. |
description | •There are no standardized protocols or predictors of reclassification from CFSPID to CF.•We report a case series of 10 children who reclassified.•The increase in sweat chloride concentration with age may be associated with risk of reclassification.•CFTR functional assay may supplement sweat chloride test in defining the diagnosis and potentially used for prognosis of CRMS/CFSPID children.
There has been a growing number of infants identified as CRMS/CFSPID in countries applying genetic testing as part of cystic fibrosis (CF) newborn screening. Currently there are neither standardized protocols for follow up beyond infancy, nor established predictors to stratify this population as high or low risk of reclassification to CF or CFTR-related disorder. We report a series of 10 children who reclassified, including eight carrying CFTR variants of varying clinical consequence and seven with initial sweat chloride measurements |
doi_str_mv | 10.1016/j.jcf.2021.06.012 |
format | article |
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There has been a growing number of infants identified as CRMS/CFSPID in countries applying genetic testing as part of cystic fibrosis (CF) newborn screening. Currently there are neither standardized protocols for follow up beyond infancy, nor established predictors to stratify this population as high or low risk of reclassification to CF or CFTR-related disorder. We report a series of 10 children who reclassified, including eight carrying CFTR variants of varying clinical consequence and seven with initial sweat chloride measurements <30 mmol/L. The overall increase in sweat chloride concentration was 5.8 mmol/L/year. Pseudomonas aeruginosa was isolated from respiratory cultures in five subjects, and reclassification was aided by human nasal epithelial cultures in two cases. In this center's experience, 6% of all CRMS/CFSPID referrals reclassified to CF over a 12-year period. The rate of sweat chloride increase, genotype, and CFTR functional assay can potentially be used as prognostic tools in the CRMS/CFSPID population.</description><identifier>ISSN: 1569-1993</identifier><identifier>EISSN: 1873-5010</identifier><identifier>DOI: 10.1016/j.jcf.2021.06.012</identifier><identifier>PMID: 34756682</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>CFSPID ; Child ; Child, Preschool ; CRMS ; Cystic Fibrosis - diagnosis ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Diagnosis ; Disease Progression ; Female ; Genetic Testing - methods ; Humans ; Infant ; Infant, Newborn ; Male ; Neonatal Screening - methods ; newborn screening ; reclassification ; sweat chloride</subject><ispartof>Journal of cystic fibrosis, 2022-01, Vol.21 (1), p.e23-e27</ispartof><rights>2021 European Cystic Fibrosis Society</rights><rights>Copyright © 2021 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c396t-e9617a97c3eb0bd35a2d589a11dbb76ef00796421ce9eeaa42c4e241ac58267e3</citedby><cites>FETCH-LOGICAL-c396t-e9617a97c3eb0bd35a2d589a11dbb76ef00796421ce9eeaa42c4e241ac58267e3</cites><orcidid>0000-0002-6743-0019</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34756682$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ginsburg, Daniella</creatorcontrib><creatorcontrib>Wee, Choo Phei</creatorcontrib><creatorcontrib>Reyes, Maria Carmen</creatorcontrib><creatorcontrib>Brewington, John J.</creatorcontrib><creatorcontrib>Salinas, Danieli B.</creatorcontrib><title>When CFSPID becomes CF</title><title>Journal of cystic fibrosis</title><addtitle>J Cyst Fibros</addtitle><description>•There are no standardized protocols or predictors of reclassification from CFSPID to CF.•We report a case series of 10 children who reclassified.•The increase in sweat chloride concentration with age may be associated with risk of reclassification.•CFTR functional assay may supplement sweat chloride test in defining the diagnosis and potentially used for prognosis of CRMS/CFSPID children.
There has been a growing number of infants identified as CRMS/CFSPID in countries applying genetic testing as part of cystic fibrosis (CF) newborn screening. Currently there are neither standardized protocols for follow up beyond infancy, nor established predictors to stratify this population as high or low risk of reclassification to CF or CFTR-related disorder. We report a series of 10 children who reclassified, including eight carrying CFTR variants of varying clinical consequence and seven with initial sweat chloride measurements <30 mmol/L. The overall increase in sweat chloride concentration was 5.8 mmol/L/year. Pseudomonas aeruginosa was isolated from respiratory cultures in five subjects, and reclassification was aided by human nasal epithelial cultures in two cases. In this center's experience, 6% of all CRMS/CFSPID referrals reclassified to CF over a 12-year period. The rate of sweat chloride increase, genotype, and CFTR functional assay can potentially be used as prognostic tools in the CRMS/CFSPID population.</description><subject>CFSPID</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>CRMS</subject><subject>Cystic Fibrosis - diagnosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Diagnosis</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Genetic Testing - methods</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Neonatal Screening - methods</subject><subject>newborn screening</subject><subject>reclassification</subject><subject>sweat chloride</subject><issn>1569-1993</issn><issn>1873-5010</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNp9kEFLAzEQRoMotlavghfp0cuuM8lussGTVKuFgoKKx5DNzuIu3W5NWsF_b0qrR08zA-_7YB5jFwgpAsrrNm1dnXLgmIJMAfkBG2KhRJIDwmHcc6kT1FoM2EkILQAqUMUxG4hM5VIWfMjO3z9oOZ5MX55nd-OSXN9RiOcpO6rtItDZfo7Y2_T-dfKYzJ8eZpPbeeKEluuEtERltXKCSigrkVte5YW2iFVZKkk1gNIy4-hIE1mbcZcRz9C6vOBSkRixq13vyvefGwpr0zXB0WJhl9RvguG5loCZ1CqiuEOd70PwVJuVbzrrvw2C2eowrYk6zFaHAWmijpi53Ndvyo6qv8Tv_xG42QEUn_xqyJvgGlo6qhpPbm2qvvmn_gfEWmyS</recordid><startdate>202201</startdate><enddate>202201</enddate><creator>Ginsburg, Daniella</creator><creator>Wee, Choo Phei</creator><creator>Reyes, Maria Carmen</creator><creator>Brewington, John J.</creator><creator>Salinas, Danieli B.</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-6743-0019</orcidid></search><sort><creationdate>202201</creationdate><title>When CFSPID becomes CF</title><author>Ginsburg, Daniella ; Wee, Choo Phei ; Reyes, Maria Carmen ; Brewington, John J. ; Salinas, Danieli B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c396t-e9617a97c3eb0bd35a2d589a11dbb76ef00796421ce9eeaa42c4e241ac58267e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>CFSPID</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>CRMS</topic><topic>Cystic Fibrosis - diagnosis</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Diagnosis</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Genetic Testing - methods</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Neonatal Screening - methods</topic><topic>newborn screening</topic><topic>reclassification</topic><topic>sweat chloride</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ginsburg, Daniella</creatorcontrib><creatorcontrib>Wee, Choo Phei</creatorcontrib><creatorcontrib>Reyes, Maria Carmen</creatorcontrib><creatorcontrib>Brewington, John J.</creatorcontrib><creatorcontrib>Salinas, Danieli B.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of cystic fibrosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ginsburg, Daniella</au><au>Wee, Choo Phei</au><au>Reyes, Maria Carmen</au><au>Brewington, John J.</au><au>Salinas, Danieli B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>When CFSPID becomes CF</atitle><jtitle>Journal of cystic fibrosis</jtitle><addtitle>J Cyst Fibros</addtitle><date>2022-01</date><risdate>2022</risdate><volume>21</volume><issue>1</issue><spage>e23</spage><epage>e27</epage><pages>e23-e27</pages><issn>1569-1993</issn><eissn>1873-5010</eissn><abstract>•There are no standardized protocols or predictors of reclassification from CFSPID to CF.•We report a case series of 10 children who reclassified.•The increase in sweat chloride concentration with age may be associated with risk of reclassification.•CFTR functional assay may supplement sweat chloride test in defining the diagnosis and potentially used for prognosis of CRMS/CFSPID children.
There has been a growing number of infants identified as CRMS/CFSPID in countries applying genetic testing as part of cystic fibrosis (CF) newborn screening. Currently there are neither standardized protocols for follow up beyond infancy, nor established predictors to stratify this population as high or low risk of reclassification to CF or CFTR-related disorder. We report a series of 10 children who reclassified, including eight carrying CFTR variants of varying clinical consequence and seven with initial sweat chloride measurements <30 mmol/L. The overall increase in sweat chloride concentration was 5.8 mmol/L/year. Pseudomonas aeruginosa was isolated from respiratory cultures in five subjects, and reclassification was aided by human nasal epithelial cultures in two cases. In this center's experience, 6% of all CRMS/CFSPID referrals reclassified to CF over a 12-year period. The rate of sweat chloride increase, genotype, and CFTR functional assay can potentially be used as prognostic tools in the CRMS/CFSPID population.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>34756682</pmid><doi>10.1016/j.jcf.2021.06.012</doi><orcidid>https://orcid.org/0000-0002-6743-0019</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | CFSPID Child Child, Preschool CRMS Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Diagnosis Disease Progression Female Genetic Testing - methods Humans Infant Infant, Newborn Male Neonatal Screening - methods newborn screening reclassification sweat chloride |
title | When CFSPID becomes CF |
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