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Lookup NU author(s): Dr Simon Doe, Dr Carlos Echevarria, Dr Stephen Bourke
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
© 2026 The Author(s)Background: A significant number of patients are not diagnosed with cystic fibrosis (CF) until adulthood when they have already sustained organ damage. Methods: We reviewed the medical records of all CF patients at our Centre who were diagnosed in adulthood to characterise the clinical features and investigation of this group of patients. Results: Of 370 patients at our CF Centre 49 (13.2%) were diagnosed in adulthood at a mean age of 42 (18-71) years. The main prior diagnosis was bronchiectasis. Disease severity was less than that of typical CF patients; mean FEV1 was 68% (range11-123%) predicted and only 17 (35%) had pancreatic insufficiency; 46 (94%) had at least one variant detected on the standard 50-variant gene assay suggesting that this is a useful initial test, but extended testing was needed to identify 20 rare variants; 47 (97%) had variants treatable by CF modulator drugs. A further 24 (6.4%) patients were diagnosed with a CF-related disorder as sinusitis, pancreatitis, diabetes, or male infertility. Conclusions: Accurate diagnosis of CF and CF-related disorders by clinical assessment, sweat tests and gene testing provides an explanation of the patient's symptoms, has implications for reproductive choices and allows specific treatment including CF modulator drugs.
Author(s): Kennedy C, Anderson A, Doe S, Duffy A, Echevarria C, Bourke SJ
Publication type: Article
Publication status: Published
Journal: Clinical Medicine, Journal of the Royal College of Physicians of London
Year: 2026
Volume: 26
Issue: 2
Print publication date: 01/03/2026
Online publication date: 20/01/2026
Acceptance date: 15/01/2026
Date deposited: 16/02/2026
ISSN (print): 1470-2118
ISSN (electronic): 1473-4893
Publisher: Elsevier
URL: https://doi.org/10.1016/j.clinme.2026.100558
DOI: 10.1016/j.clinme.2026.100558
Data Access Statement: The data that support the findings in this study are available from the corresponding author upon reasonable request.
PubMed id: 41570920
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