Cystic fibrosis to CFSPID: burden of care vs need and rational approach to weaning therapies
File(s)
Accepted version
Author(s)
Andreou, S Hadjisymeou
Davies, JC
Type
Journal Article
Abstract
We present a case of a 10-year-old boy initially diagnosed with CF based on NBS guidelines. However, as CF genetics knowledge has advanced, he has been reclassified as CFSPID based on normal investigations and excellent general clinical status, in line with updated CFSPID guidelines. This case highlights the significance of reviewing CF diagnoses according to the latest understanding of CFTR mutation phenotypes, as well as the patient's clinical status. In order to identify opportunities to save patients from burdensome CF treatment and management, we review current CFSPID guidelines, emphasizing care tailored to each individual case.
Date Issued
2023-09
Date Acceptance
2023-07-10
Citation
Paediatric Respiratory Reviews, 2023, 47, pp.27-29
ISSN
1526-0542
Publisher
Elsevier
Start Page
27
End Page
29
Journal / Book Title
Paediatric Respiratory Reviews
Volume
47
Copyright Statement
Copyright © Elsevier Ltd. All rights reserved. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/37487798
PII: S1526-0542(23)00042-8
Subjects
CFSPID
CFTR variants
Cystic fibrosis
Variants of varying clinical consequence
Publication Status
Published
Coverage Spatial
England
Date Publish Online
2023-07-13