家族性大腸腺腫症
WordNet
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
UpToDate Contents
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English Journal
- Concurrent Hepsin overexpression and adenomatous polyposis coli deletion causes invasive prostate carcinoma in mice.
- Valkenburg KC1, Hostetter G2, Williams BO1.
- The Prostate.Prostate.2015 Oct;75(14):1579-85. doi: 10.1002/pros.23032. Epub 2015 Jul 2.
- BACKGROUND: A clinical need to better categorize patients with prostate cancer exists. The Wnt/β-catenin signaling pathway plays important roles in human prostate cancer progression. Deletion of the endogenous Wnt antagonist adenomatous polyposis coli (Apc) in mice causes high grade prostate intrae
- PMID 26139199
- Hereditary Colorectal Cancer: Genetics and Screening.
- Brosens LA1, Offerhaus GJ2, Giardiello FM3.
- The Surgical clinics of North America.Surg Clin North Am.2015 Oct;95(5):1067-80. doi: 10.1016/j.suc.2015.05.004. Epub 2015 Jun 16.
- Colorectal cancer (CRC) is the third most common cancer and the third leading cause of cancer death in men and women in the United States. About 30% of patients with CRC report a family history of CRC. However, only 5% of CRCs arise in the setting of a well-established mendelian inherited disorder.
- PMID 26315524
- Genetic Variants That Presdispose to DNA Double-strand Breaks in Lymphocytes from a Subset of Patients With Familial Colorectal Carcinomas.
- Arora S1, Yan H2, Cho I3, Fan HY3, Luo B4, Gai X5, Bodian DL6, Vockley JG6, Zhou Y7, Handorf E7, Egleston BL8, Andrake M9, Nicolas E10, Serebriiskii I11, Yen TJ2, Hall MJ12, Golemis EA13, Enders GH14.
- Gastroenterology.Gastroenterology.2015 Sep 4. pii: S0016-5085(15)01259-7. doi: 10.1053/j.gastro.2015.08.052. [Epub ahead of print]
- BACKROUND & AIMS: DNA structural lesions are prevalent in sporadic colorectal cancer, so we proposed that gene variants that predispose to DNA double-strand breaks (DSBs) would be found in patients with familial colorectal carcinomas of an undefined genetic basis (UFCRC).METHODS: We collected pr
- PMID 26344056
Japanese Journal
- 遺伝性大腸癌診療ガイドラインによる診断・治療 (特集 大腸癌の最新治療 : 治癒に向けた最先端研究) -- (臨床研究)
- 薬物動態を考慮して薬剤を選択したオピオイドによって疼痛管理が可能となった短腸症候群合併デスモイド腫瘍の1例
- 佐藤 将之,宮森 正,服部 ゆかり,小柳 純子,坂 祥平,村瀬 樹太郎,石井 信朗,西 智弘,山岸 正
- Palliative Care Research 8(1), 511-514, 2013
- 【症例】40歳代, 男性. 既往に家族性大腸ポリポーシスによる大腸全摘術と腹腔内デスモイド腫瘍に対する腫瘍摘出術, 小腸大量切除の既往がある. 当院受診前まではデスモイド遺残腫瘍による腹痛と短腸症候群による下痢を自覚. 前医でフェンタニル貼付剤100 μg/時を1日5枚同時に使用しても疼痛管理は不良となり, その後はモルヒネ徐放製剤270 mg/日を中心に治療を受けていたが疼痛の訴えは続いた. 当 …
- NAID 130003367227
- Birt-Hogg-Dubé Syndrome and Familial Adenomatous Polyposis: An Association or a Coincidence?
- Kashiwada Takeru,Shimizu Hidefumi,Tamura Kazuo,Seyama Kuniaki,Horie Yoshimasa,Mizoo Akira
- Internal Medicine 51(13), 1789-1792, 2012
- … An association between Birt-Hogg-Dubé syndrome (BHDS) and colon cancer remains conjectural, but herein we describe a case who may illustrate a significant link between them. … The 60-year-old woman was diagnosed at 28 years of age with colon carcinoma and familial adenomatous polyposis (FAP). … We confirmed the presence of germline mutations in both her folliculin (FLCN) and adenomatous polyposis coli (APC) genes. …
- NAID 130002062197
Related Links
- Familial polyposis syndrome symptoms, causes, diagnosis, and treatment information for Familial polyposis syndrome (Familial polyposis - classical) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...
- Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop ...
Related Pictures
★リンクテーブル★
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- 英
- familial adenomatous polyposis, FAP
- 同
- 家族性大腸ポリポーシス ,familial polyposis coli, FPC, 家族性大腸ポリープ症, familial adenomatous polyposis coli
- 家族性ポリポーシス familial polyposis syndrome familial polyposis
- 関
- 大腸ポリポーシス
- familial polyposis syndrome
概念
- 癌抑制遺伝子APC geneのloss of functionにより、大腸全体にびまん性に腺腫を生ずる。
分類
- 家族性大腸腺腫症のうち、以下の合併症を伴う物はそれぞれ家族性大腸腺腫症の下位概念として名称が与えられている
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- SSUR.546によると、Garder症候群 ≒ 家族性大腸腺腫症。すなわち「古典的なGardner症候群の類似疾患である」(SSUR.546)
病因
疫学
遺伝形式
病変形成&病理
症状
合併症
- 消化管:大腸。60-70%の症例で → 小腸・胃(胃底腺領域)・十二指腸
- 消化管外:顎骨内骨腫、顎骨以外の骨病変、網膜色素斑、体表の軟部組織腫瘍、デスモイド腫瘍、歯牙腫、甲状腺癌、子宮癌
診断
検査
治療
予後
- 大腸癌は20歳ごろから発生、40歳で50%リスク、60歳でほぼ全例。癌により死亡する平均の年齢は42歳。(YN.A-74)
予防
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- 関
- family、family member、household、kindred
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ポリープ症、ポリポーシス
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