Clinical imaging · 2012
The discovery of a Persian family with a form of Birt-Hogg-Dubé syndrome lacking the typical cutaneous stigmata of the syndrome.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Babaei Jandaghi Ali, Daliri Saeid, Kikkawa Mika, Khaledi Mojdeh, Soleimanifar Narjes, Alizadeh Ahmad, Habibzadeh Mahmoud, Haghi-Ashtiani Mohammad Taghi, Seyama Kuniaki, Rezaei Nima
Аннотация
PURPOSE: This study was performed in 24 members of a family with spontaneous pneumothorax to test clinical suspicion of Birt-Hogg-Dubé syndrome (BHDS).
METHODS: Computed tomography scan was performed for confirmation of pneumothorax, while genetic tests were done using real-time quantitative polymerase chain reaction.
RESULTS: Genetic studies showed a deletion of exon 1 in the FLCN gene in the index case as well as nine other individuals, including two with clinical phenotypes of pneumothorax and seven who are symptom-free to date.
CONCLUSIONS: Proper imaging and taking accurate family history could be the keys to test clinical suspicion in some syndromes, including BHDS.
METHODS: Computed tomography scan was performed for confirmation of pneumothorax, while genetic tests were done using real-time quantitative polymerase chain reaction.
RESULTS: Genetic studies showed a deletion of exon 1 in the FLCN gene in the index case as well as nine other individuals, including two with clinical phenotypes of pneumothorax and seven who are symptom-free to date.
CONCLUSIONS: Proper imaging and taking accurate family history could be the keys to test clinical suspicion in some syndromes, including BHDS.