Type of publication:
Journal article
Author(s):
*Johnson, Jessie; *Ahmad, Nawaid
Citation:
BMJ Case Reports. 19(6), 2026 Jun 29.
Abstract:
Cystic fibrosis (CF) is traditionally regarded as a paediatric disorder, with over 75% of cases diagnosed before the age of 2 years. We describe the case of CF diagnosed in a man in his 70s following investigations prompted by an incidental finding of a pulmonary nodule and bronchiectasis onimaging. Further multidisciplinary assessmentraised the possibility of CF. The diagnosis was confirmed through elevated sweat chloride levels and CFTR genotyping identifying compound heterozygosity for F508delandR347H This case serves as a timely reminder, particularly for clinicians outside specialist CF services, to consider CF when the constellation of features is suggestive, irrespective of age. It highlights that practice around CF screening in adults with bronchiectasis varies between centres and invites reflection on whether more standardised approaches might help reduce diagnostic delay. For specialist readers, the case further underscores that genotype-phenotype correlations in CF do not always align with expected clinical patterns.
DOI: 10.1136/bcr-2025-271848
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