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J-GLOBAL ID：202002255557861685   Reference number：20A0321287

A Case of Birt-Hogg-Dube Syndrome Diagnosed by Pneumothorax without Skin or Kidney Lesion

皮膚や腎に病変を認めず,気胸からBirt-Hogg-Dube(BHD)症候群と診断した一例

Author (5)： ANDO KOHEI (横須賀共済病院 呼吸器外科) ,  KOGA HIROYASU (横須賀共済病院 呼吸器外科) ,  KAMEDA YOHEI (横須賀共済病院 呼吸器外科) ,  OSAWA HIROYUKI (横浜南共済病院 呼吸器外科) ,  MOROHOSHI TAKAO (横須賀共済病院 呼吸器外科)
Material： 共済医報  (Kyosei Medical Journal)
Volume： 68  Issue： 4  Page： 368-372  Publication year： Nov. 01, 2019 
JST Material Number： F0817A  ISSN： 0454-7586  CODEN： KYIHAZ  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human ,...
Semi thesaurus term： *Birt-Hogg-Dube Syndrome

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JST classification (2)： Respiratory system diagnosis  (GI02000S) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Reference (5)：

• Birt AR, Hogg GR, Dubé WJ : Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol, 113 : 1674-1677, 1977.
• Shmidt LS, Warren MB, Nickerson ML, et al : Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet, 69 : 876-882, 2001.
• Zbar B, Alvord WG, Glenn G, et al : Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev, 11 : 393-400, 2002.
• Gunji Y, Akiyoshi T, Kurihara M, et al : Mutations of the Birt-Hogg-Dubé gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet, 44 : 588-593, 2007.
• Kuroda N, Furuya M, Nagashima Y, et al : Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects. Pol J Pathol, 65 : 93-99, 2014.

Terms in the title (6)： 皮膚 ,  腎 ,  病変 ,  気胸 ,  症候群 ,  診断