Journal article
A case report of Birt-Hogg-Dubé syndrome associated with severe airway obstruction in a 62-year-old female smoker
Respirology case reports, Vol.12(3), pp.e01327-n/a
03/2024
DOI: 10.1002/rcr2.1327
PMID: 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
gene, confirming the diagnosis of BHD.
Details
- Title: Subtitle
- A case report of Birt-Hogg-Dubé syndrome associated with severe airway obstruction in a 62-year-old female smoker
- Creators
- Kiyoshi Uemasu - University of PittsburghToru Nyunoya - University of Pittsburgh
- Resource Type
- Journal article
- Publication Details
- Respirology case reports, Vol.12(3), pp.e01327-n/a
- DOI
- 10.1002/rcr2.1327
- PMID
- 38523622
- ISSN
- 2051-3380
- eISSN
- 2051-3380
- Grant note
- I01 BX006096 / BLRD VA R01 HL149719 / NHLBI NIH HHS I01 CX000105 / CSRD VA
- Language
- English
- Date published
- 03/2024
- Academic Unit
- Internal Medicine
- Record Identifier
- 9985214102302771
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