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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Bibliographic Details
Published in:Journal of cystic fibrosis 2022-01, Vol.21 (1), p.e23-e27
Main Authors: Ginsburg, Daniella, Wee, Choo Phei, Reyes, Maria Carmen, Brewington, John J., Salinas, Danieli B.
Format: Article
Language:English
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
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Summary:•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
ISSN:1569-1993
1873-5010
DOI:10.1016/j.jcf.2021.06.012