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When CFSPID becomes CF
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DOI：10.1016/j.jcf.2021.06.012.png)
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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. (c) 2021 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
Keyword:
Diagnosis
CRMS
CFSPID
newborn screening
sweat chloride
reclassification
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Outcomes of Infants With Indeterminate Diagnosis Detected by Cystic Fibrosis Newborn Screening.png)
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OAAI分享收藏Brushed nasal epithelial cells are a surrogate for bronchial epithelial CFTR studiesJCI INSIGHT
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