家族性アミロイドーシス
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 disorder characterized by deposit of amyloid in organs or tissues; often secondary to chronic rheumatoid arthritis or tuberculosis or multiple myeloma
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
UpToDate Contents
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English Journal
- Familial amyloid polyneuropathy: elaboration of a therapeutic patient education programme, "EdAmyl".
- Théaudin M1, Cauquil C, Antonini T, Algalarrondo V, Labeyrie C, Aycaguer S, Clément M, Kubezyk M, Nonnez G, Morier A, Bourges C, Darras A, Mouzat L, Adams D.
- Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.Amyloid.2014 Dec;21(4):225-30. doi: 10.3109/13506129.2014.941463. Epub 2014 Jul 29.
- Abstract Background: Transthyretin-related amyloidosis (ATTR) is an autosomal dominant disease affecting the peripheral and autonomic nervous system, heart, eyes and kidneys. It is the most disabling hereditary polyneuropathy in adults. The French National Reference centre for this disease was accre
- PMID 25069833
- Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
- Piram M1, Koné-Paut I1, Lachmann HJ2, Frenkel J3, Ozen S4, Kuemmerle-Deschner J5, Stojanov S6, Simon A7, Finetti M8, Sormani MP9, Martini A10, Gattorno M8, Ruperto N8; EUROFEVER, EUROTRAPS and the Paediatric Rheumatology International Trials Organisation (PRINTO) networks.
- Annals of the rheumatic diseases.Ann Rheum Dis.2014 Dec;73(12):2168-73. doi: 10.1136/annrheumdis-2013-203666. Epub 2013 Sep 11.
- OBJECTIVES: To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-asso
- PMID 24026675
- Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.
- Sedivá A1, Horváth R, Maňásek V, Gregorová A, Plevová P, Horáčková M, Tesařová M, Toplak N, Debeljak M.
- Clinical genetics.Clin Genet.2014 Dec;86(6):564-9. doi: 10.1111/cge.12323. Epub 2013 Dec 20.
- Familial Mediterranean fever (FMF) is a well-described monogenic autosomal recessive disorder with highest occurrence in the Mediterranean region. In this article, we describe the experience of a center in the Czech Republic that follows four families with members bearing mutations in MEFV gene with
- PMID 24251727
Japanese Journal
- 家族性アミロイドポリニューロパチー : 肝移植の現状 (特集 アミロイド関連神経疾患のすべて) -- (封入体筋炎からアルツハイマー病まで)
- 家族性アミロイドポリニューロパチー : 臨床と病理 (特集 アミロイド関連神経疾患のすべて) -- (封入体筋炎からアルツハイマー病まで)
- 脳アミロイド血管症の病態と治療 : 家族性トランスサイレチン型脳軟膜アミロイドーシスを含む (特集 あしたの脳梗塞)
Related Links
- Familial The familial types of amyloidoses are rare, with an estimated incidence of less than 1 per 100,000. They are autosomal dominant inherited diseases which means that a child of an affected parent has a 50% chance of ...
- familial amyloidosis n. A hereditary form of amyloidosis associated with familial Mediterranean fever, cold hypersensitivity, various patterns of neuropathy, or amyloid deposits in various organs. fa·mil·i·al am·y·loid neu·rop·a·thy [MIM ...
Related Pictures
★リンクテーブル★
[★]
- 英
- familial amyloidosis
- 同
- 遺伝性アミロイドーシス hereditary amyloidosis、AF amyloidosis
- 関
- アミロイドーシス
概念
- variant plasma proteinがアミロイドとして沈着することにより発症するアミロイドーシスの一型。
分類
遺伝形式
疫学
- HIM.2148
- まれ、罹患率<1/10万人
- 中年発症
- (Ile122変異の型は)アフリカ系アメリカ人に多く、変異の頻度は4%である。
症候
- HIM.2148
- 感覚神経と運動神経を冒すような下肢の末梢ニューロパチーで発症し、上肢に及ぶ。自律神経症状は消化管症状(体重減少を伴う下痢)や起立性低血圧がある。
- 家族性アミロイド心筋症(familial amyloidotic cardiomyopathy)
臨床関連
[★]
遺伝性アミロイドーシス
- 関
- familial amyloidosis
[★]
- 関
- family、family member、household、kindred
[★]
アミロイドーシス アミロイド症