腎癌と気胸を同時発見されたBirt-Hogg-Dubé症候群の1例
Birt-Hogg-Dubé症候群は常染色体優性遺伝疾患であり,皮膚病変,腎腫瘍,気胸が主な病態である.症例は40歳代の女性で,左気胸の術後再発に対し肺囊胞縫縮術と被覆を行った.6年前に左気胸および左腎癌の既往歴があり,また母,叔父,叔母,従姉妹に気胸の家族歴があったため,Birt-Hogg-Dubé症候群を疑い,遺伝子検査を行った.その結果FLCN遺伝子に変異を認めBirt-Hogg-Dubé症候群と確定診断した.本疾患の長期予後は明らかではなく,長期的な経過観察が必要と考えられた....
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Published in | 日本呼吸器外科学会雑誌 Vol. 30; no. 4; pp. 472 - 475 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | Japanese |
Published |
特定非営利活動法人 日本呼吸器外科学会
2016
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Subjects | |
Online Access | Get full text |
ISSN | 0919-0945 1881-4158 |
DOI | 10.2995/jacsurg.30.472 |
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Abstract | Birt-Hogg-Dubé症候群は常染色体優性遺伝疾患であり,皮膚病変,腎腫瘍,気胸が主な病態である.症例は40歳代の女性で,左気胸の術後再発に対し肺囊胞縫縮術と被覆を行った.6年前に左気胸および左腎癌の既往歴があり,また母,叔父,叔母,従姉妹に気胸の家族歴があったため,Birt-Hogg-Dubé症候群を疑い,遺伝子検査を行った.その結果FLCN遺伝子に変異を認めBirt-Hogg-Dubé症候群と確定診断した.本疾患の長期予後は明らかではなく,長期的な経過観察が必要と考えられた. |
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AbstractList | Birt-Hogg-Dubé症候群は常染色体優性遺伝疾患であり,皮膚病変,腎腫瘍,気胸が主な病態である.症例は40歳代の女性で,左気胸の術後再発に対し肺囊胞縫縮術と被覆を行った.6年前に左気胸および左腎癌の既往歴があり,また母,叔父,叔母,従姉妹に気胸の家族歴があったため,Birt-Hogg-Dubé症候群を疑い,遺伝子検査を行った.その結果FLCN遺伝子に変異を認めBirt-Hogg-Dubé症候群と確定診断した.本疾患の長期予後は明らかではなく,長期的な経過観察が必要と考えられた. |
Author | 須﨑, 剛行 林, 明男 竹内, 幸康 谷口, 聖治 前田, 元 大瀬, 尚子 |
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References | 6. Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, et al. Clinical and genetic spectrum of Birt-Hogg-Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet 2010; 47: 281-7. 5. Furuya M, Nakatani Y. Birt-Hogg-Dubé syndrome: clinicopathological features of the lung. J Clin Pathol 2013; 66: 178-86. 3. Roth JS, Rabinowitz AD, Benson M, Grossman ME. Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 1993; 29: 1055-6. 4. Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zber B, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol 1999; 135: 1195-202. 8. Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, et al. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer 2011; 105: 1912-9. 1. Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell 2002; 2: 157-64. 2. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977; 113: 1674-7. 7. Tobino K, Gunji Y, Kurihara M, Kunogi M, Koike K, Tomiyama N, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol 2011; 77: 403-9. |
References_xml | – reference: 6. Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, et al. Clinical and genetic spectrum of Birt-Hogg-Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet 2010; 47: 281-7. – reference: 4. Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zber B, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol 1999; 135: 1195-202. – reference: 8. Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, et al. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer 2011; 105: 1912-9. – reference: 1. Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell 2002; 2: 157-64. – reference: 2. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977; 113: 1674-7. – reference: 7. Tobino K, Gunji Y, Kurihara M, Kunogi M, Koike K, Tomiyama N, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol 2011; 77: 403-9. – reference: 5. Furuya M, Nakatani Y. Birt-Hogg-Dubé syndrome: clinicopathological features of the lung. J Clin Pathol 2013; 66: 178-86. – reference: 3. Roth JS, Rabinowitz AD, Benson M, Grossman ME. Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 1993; 29: 1055-6. |
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Snippet | Birt-Hogg-Dubé症候群は常染色体優性遺伝疾患であり,皮膚病変,腎腫瘍,気胸が主な病態である.症例は40歳代の女性で,左気胸の術後再発に対し肺囊胞縫縮術と被覆を... |
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SubjectTerms | Birt-Hogg-Dubé症候群 FLCN(folliculin)遺伝子 気胸 肺囊胞 腎癌 |
Title | 腎癌と気胸を同時発見されたBirt-Hogg-Dubé症候群の1例 |
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