Academic Journal
Cystic fibrosis in a septuagenarian.
| Title: | Cystic fibrosis in a septuagenarian. |
|---|---|
| Authors: | Johnson J; The Shrewsbury and Telford Hospital NHS Trust, Shropshire, UK jessie.johnson2@nhs.net., Ahmad N; The Shrewsbury and Telford Hospital NHS Trust, Shropshire, UK. |
| Source: | BMJ case reports [BMJ Case Rep] 2026 Jun 29; Vol. 19 (6). Date of Electronic Publication: 2026 Jun 29. |
| Publication Type: | Journal Article; Case Reports |
| Language: | English |
| Journal Info: | Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London : BMJ Pub. Group |
| MeSH Terms: | Cystic Fibrosis*/diagnosis , Cystic Fibrosis*/genetics , Cystic Fibrosis*/complications , Bronchiectasis*/etiology , Bronchiectasis*/diagnostic imaging, Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Sweat/chemistry ; Humans ; Male |
| 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 on imaging. Further multidisciplinary assessment raised the possibility of CF. The diagnosis was confirmed through elevated sweat chloride levels and CFTR genotyping identifying compound heterozygosity for F508del and R347H 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. (© BMJ Publishing Group Limited 2026. No commercial re-use. See rights and permissions. Published by BMJ Group.) |
| Competing Interests: | Competing interests: None declared. |
| Contributed Indexing: | Keywords: Cystic fibrosis; Lung function |
| Substance Nomenclature: | 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator) 0 (CFTR protein, human) |
| Entry Date(s): | Date Created: 20260629 Date Completed: 20260629 Latest Revision: 20260629 |
| Update Code: | 20260630 |
| DOI: | 10.1136/bcr-2025-271848 |
| PMID: | 42373200 |
| Database: | MEDLINE |
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