A Japanese Family with Multiple Lung Cysts and Recurrent Pneumothorax: A Possibility of Birt-Hogg-Dubé Syndrome
スポンサーリンク
概要
- 論文の詳細を見る
We herein report a Japanese family lineage, possibly demonstrating Birt-Hogg-Dubé (BHD) syndrome. A 29-year-old nonsmoking woman was admitted to our hospital due to spontaneous pneumothorax. A chest CT showed multiple lung cysts, and breast cancer was simultaneously detected that needed priority surgical treatment. In the family history, the patients father and half brother also experienced recurrent pneumothorax, and both had similar findings in their chest CT. In a genetic analysis of her half brother, the mutation of the BHD gene was identified. BHD syndrome is a rare autosomal and dominantly inherited disorder, which has three characteristics: multiple lung cysts that may be associated with pneumothorax, skin fibrofolliculomas, and renal neoplasm. For multiple-cystic disease of the lungs with an unknown etiology, or pneumothorax, as seen in a family history, it is necessary to consider the possibility of BHD syndrome.
著者
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Shirai Ryo
Department Of Applied Biology Kyoto Institute Of Technology
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Kadota Jun-ichi
Department Of Internal Medicine Faculty Of Medicine Oita University
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Tokimatsu Issei
Department Of Infectious Diseases Oita University Faculty Of Medicine
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Kawahara Katsunobu
Department Of Oncological Science (surgery 2) Oita University Faculty Of Medicine
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Otani Satoshi
Department Of Fisheries Faculty Of Agriculture Kinki University
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Ishii Hiroshi
Department Of Chemical Science And Engineering Tokyo National College Of Technology
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Kadota Jun-ichi
Department of Internal Medicine II, Oita University Faculty of Medicine
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Iwata Atsuko
Department of Internal Medicine II, Oita University Faculty of Medicine
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OKA Hiroaki
Department of Biological Chemistry, Faculty of Pharmacy, Kinki University
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Oka Hiroaki
Department of Internal Medicine II, Oita University Faculty of Medicine
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Amemiya Yuka
Department of Respiratory Medicine (Internal Medicine II), Oita University Hospital
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Kishi Kenji
Department of Respiratory Medicine (Internal Medicine II), Oita University Hospital
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Amemiya Yuka
Department of Internal Medicine 2, Oita University Faculty of Medicine
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Iwata Atsuko
Department of Infectious Diseases, Oita University Faculty of Medicine
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Kishi Kenji
Department of Internal Medicine II, Oita University Faculty of Medicine
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Kishi Kenji
Department of Infectious Diseases, Oita University Faculty of Medicine
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Kadota Jun-ichi
Department of Internal Medicine 2, Oita University Faculty of Medicine, Japan
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Otani Satoshi
Department of Internal Medicine II, Oita University Faculty of Medicine
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Kadota Jun-ichi
Department of Infectious Diseases, Oita University Faculty of Medicine
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