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KMID : 1035620150030030232
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Allergy Asthma & Respiratory Disease
2015 Volume.3 No. 3 p.232 ~ p.235
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Birt-Hogg-Dube syndrome incidentally diagnosed during asthma management
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김준호:Kim Jun-Ho
박경희:Park Kyung-Hee/김동현:Kim Dong-Hyun/김영주:Kim Young-Joo/박중원:Park Jung-Won/박혜정:Park Hye-Jung/이진성:Lee Jin-Sung/최종락:Choi Jong-Rak/이재현:Lee Jae-Hyun
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Abstract
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Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant hereditary disorder characterized by 3 clinical manifestations, including skin fibrofolliculomas, multiple pulmonary cysts with or without spontaneous pneumothorax, and spontaneous renal tumor. A 60-year-old Korean male who had suffered from bronchial asthma incidentally diagnosed with multiple pulmonary cysts by computed tomography during a regular follow-up. Genetic studies revealed folliculin gene mutation that was a confirmative finding of BHD syndrome. Although this case showed no cutaneous manifestations or renal abnormality, genetic studies of his family and regular follow-up are recommended.
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KEYWORD
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Birt-Hogg-Dube syndrome, Human FLCN protein, Kidney neoplasms, Asthma
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