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
Main Authors 谷口, 聖治, 大瀬, 尚子, 前田, 元, 須﨑, 剛行, 竹内, 幸康, 林, 明男
Format Journal Article
LanguageJapanese
Published 特定非営利活動法人 日本呼吸器外科学会 2016
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ISSN0919-0945
1881-4158
DOI10.2995/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.
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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