A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smoker
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...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-03-01
|
| Series: | Respirology Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/rcr2.1327 |
| _version_ | 1797242767883108352 |
|---|---|
| author | Kiyoshi Uemasu Toru Nyunoya |
| author_facet | Kiyoshi Uemasu Toru Nyunoya |
| author_sort | Kiyoshi Uemasu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T18:44:28Z |
| format | Article |
| id | doaj.art-a6779260d5234b64909e93814537c062 |
| institution | Directory Open Access Journal |
| issn | 2051-3380 |
| language | English |
| last_indexed | 2024-04-24T18:44:28Z |
| publishDate | 2024-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Respirology Case Reports |
| spelling | doaj.art-a6779260d5234b64909e93814537c0622024-03-27T08:30:32ZengWileyRespirology Case Reports2051-33802024-03-01123n/an/a10.1002/rcr2.1327A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smokerKiyoshi Uemasu0Toru Nyunoya1Department of Medicine University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USADepartment of Medicine University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USAAbstract 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.https://doi.org/10.1002/rcr2.1327Birt–Hogg–Dubé syndromecentrilobular emphysemachronic obstructive diseasefolliculinparaseptal emphysema |
| spellingShingle | Kiyoshi Uemasu Toru Nyunoya A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smoker Respirology Case Reports Birt–Hogg–Dubé syndrome centrilobular emphysema chronic obstructive disease folliculin paraseptal emphysema |
| title | A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smoker |
| title_full | A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smoker |
| title_fullStr | A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smoker |
| title_full_unstemmed | A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smoker |
| title_short | A case report of Birt–Hogg–Dubé syndrome associated with severe airway obstruction in a 62‐year‐old female smoker |
| title_sort | case report of birt hogg dube syndrome associated with severe airway obstruction in a 62 year old female smoker |
| topic | Birt–Hogg–Dubé syndrome centrilobular emphysema chronic obstructive disease folliculin paraseptal emphysema |
| url | https://doi.org/10.1002/rcr2.1327 |
| work_keys_str_mv | AT kiyoshiuemasu acasereportofbirthoggdubesyndromeassociatedwithsevereairwayobstructionina62yearoldfemalesmoker AT torunyunoya acasereportofbirthoggdubesyndromeassociatedwithsevereairwayobstructionina62yearoldfemalesmoker AT kiyoshiuemasu casereportofbirthoggdubesyndromeassociatedwithsevereairwayobstructionina62yearoldfemalesmoker AT torunyunoya casereportofbirthoggdubesyndromeassociatedwithsevereairwayobstructionina62yearoldfemalesmoker |