Fibrosis quística diagnosticada en la adultez: presentación de un caso clínico y revisión de la literatura

Abstract

We present the case of a 40-year-old woman with a history of diabetes mellitus treated with insulin and chronic cough, in whom apical bronchiectasis and multiple hospitalizations due to respiratory exacerbations were identified. Given the clinical suspicion of cystic fibrosis, two sweat tests with bor- derline values were performed, along with confirmatory genetic testing that revealed two heterozygous CFTR gene mutations, establishing the diagnosis. Cystic fibrosis in adults may present with atypical phenotypes, especially in carriers of compound heterozygous variants, with chronic respiratory symp- toms and pancreatic involvement. This case highlights the importance of considering cystic fibrosis in the evaluation of adult bronchiectasis, particularly in the presence of suggestive history and chloride concentrations in sweet with borderline values, emphasizing the need for early diagnosis to improve prognosis.