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

Cystic fibrosis diagnosed in adulthood: a clinical case report and literature reviewWe 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 borderline 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 symptoms 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.

Authors

Publication Details

Journal
Revista chilena de enfermedades respiratorias
Published
2025-12-01
DOI
https://doi.org/10.4067/s0717-73482025000400273
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Luis Soto G, Rodrigo Araya A., Paula Irazoqui G., Felipe Gallardo F. et al.
Revista chilena de enfermedades respiratorias
Cystic Fibrosis Research Advances
article

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

Luis Soto G, Rodrigo Araya A., Paula Irazoqui G., Felipe Gallardo F., Marcela Maureira L., Alberto Cuevas V.
article en

Abstract

Cystic fibrosis diagnosed in adulthood: a clinical case report and literature reviewWe 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 borderline 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 symptoms 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.

Revista chilena de enfermedades respiratoriasVol. 41(4)
Gender equality
Openalex Percentile: Top 23%
Cystic Fibrosis Research Advances
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.