A case report of Birt-Hogg-Dubé syndrome associated with severe airway obstruction in a 62-year-old female smoker.
Respirol Case Rep
; 12(3): e01327, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-38523622
ABSTRACT
Birt-Hogg-Dubé syndrome (BHD) typically does not manifest airway obstruction despite the presence of multiple lung cysts. However, the long-term effects of cigarette smoking on lung function among individuals with BHD are unknown. We report a case of a smoking individual diagnosed with BHD syndrome complicated by spontaneous pneumothorax and severe airway obstruction. The patient presented with chronic dyspnea and productive cough. Further work-up revealed severe obstructive airflow limitation, and multiple lung cysts in both lungs, accompanied centrilobular emphysematous changes. Genetic testing confirmed a heterozygous deletion of exons 6-8 in the folliculin gene, confirming the diagnosis of BHD.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article