Year: 2025
Type: article
Study design: Case Report
Abstract: Cystic fibrosis (CF) is rarely diagnosed in adulthood, but milder forms with residual cystic fibrosis transmembrane conductance regulator (CFTR) function can delay diagnosis. The 3849+10KbC>T mutation, a class V splicing mutation, results in residual CFTR function and atypical CF presentations, often remaining undiagnosed until adulthood. In these cases, neonatal screening may be negative. CF should be suspected in adults with bronchiectasis, especially when localized to the upper lobes or associated with nutritional deficiencies, recurrent pancreatitis, infertility, or nasal polyps. Early diagnosis and CFTR-targeted therapies can significantly improve disease outcomes and quality of life. We present the case of a 58-year-old patient with delayed CF diagnosis due to atypical disease presentation, loss to follow-up, and pulmonologists' reluctance to consider CF in adult bronchiectasis. This case highlights the importance of thorough evaluation of bronchiectasis in adults to ensure timely diagnosis and appropriate management.
Source: Cureus
DOI: 10.7759/cureus.92472
Institution: University of Pisa
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414227799