ArticleRespirology case reports2024
A case report of Birt-Hogg-Dubé syndrome associated with severe airway obstruction in a 62-year-old female smoker.
Article in Respirology case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 0 citations in OpenAlex.
- Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.The American journal of case reports · 2025Article
- A case report of Birt-Hogg-Dubé syndrome associated with severe airway obstruction in a 62-year-old female smoker.Respirology case reports · 2024Article
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2 authors at 1 institution in 1 country.
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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
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