Wilson's disease

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/04/17 15:25:10」(JST)

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  • Ten years of neurogenetic requests: to test or not to test?
  • Appleton J, Nicholl D, Fulton P, Macdonald F.SourceCity Hospital, Sandwell and West Birmingham Hospitals NHS Trust; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital.
  • Journal of neurology, neurosurgery, and psychiatry.J Neurol Neurosurg Psychiatry.2013 Nov;84(11):e2. doi: 10.1136/jnnp-2013-306573.132.
  • BACKGROUND: Clinical neurology has benefitted significantly from advances in molecular genetics with the discovery of disease-associated genes leading to the clinical application of genetic testing. With an ever increasing arsenal of genetic tests available to neurologists we thought it pertinent to
  • PMID 24108904
  • Alterations of cortical excitability and central motor conduction time in Wilson's disease.
  • Jhunjhunwala K, Prashanth DK, Netravathi M, Nagaraju BC, Pal PK.SourceDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Hosur Road, Bangalore 560029, Karnataka, India.
  • Neuroscience letters.Neurosci Lett.2013 Oct 11;553:90-4. doi: 10.1016/j.neulet.2013.08.023. Epub 2013 Aug 21.
  • Wilson's disease (WD) leads to widespread structural alterations of central nervous system and our objectives were to determine the cortical excitability changes in WD by using transcranial magnetic stimulation (TMS). Thirteen patients with WD, diagnosed by the presence of Kayser-Fleischer ring and
  • PMID 23973307
  • Samuel Alexander Kinnier Wilson. Wilson's disease, Queen Square and neurology.
  • Broussolle E, Trocello JM, Woimant F, Lachaux A, Quinn N.SourceService de neurologie C, université Claude-Bernard-Lyon I, hospices civils de Lyon, hôpital neurologique Pierre-Wertheimer, 59, boulevard Pinel, 69500 Bron, France; CNRS UMR 5229, centre de neurosciences cognitives, 67, boulevard Pinel, 69675 Bron cedex, France. Electronic address: emmanuel.broussolle@chu-lyon.fr.
  • Revue neurologique.Rev Neurol (Paris).2013 Oct 11. pii: S0035-3787(13)00891-6. doi: 10.1016/j.neurol.2013.04.006. [Epub ahead of print]
  • This historical article describes the life and work of the British physician Samuel Alexander Kinnier Wilson (1878-1937), who was one of the world's greatest neurologists of the first half of the 20th century. Early in his career, Wilson spent one year in Paris in 1903 where he learned from Pierre-M
  • PMID 24125461


  • 症例 精神症状が先行して発症したWilson病の1例
  • 齋藤 恒祐,香月 あすか,柴田 裕香 [他]
  • 精神科 21(4), 463-467, 2012-10-00
  • NAID 40019452658
  • 嚥下および平衡機能障害を呈したウィルソン病患者の抜歯時における静脈内鎮静法管理
  • 宮田 一生,藤澤 俊明,福島 和昭
  • 日本歯科麻酔学会雑誌 40(2), 219-220, 2012-04-15
  • NAID 10030555016
  • 銅代謝異常症 : Wilson病 (特集 種々の代謝異常)
  • 清水 教一
  • 内分泌・糖尿病・代謝内科 34(3), 229-233, 2012-03-00
  • NAID 40019293137


Wilson’s Disease is a genetic disorder that occurs when a person inherits certain genes that lead to an over-accumulation of copper in the body.
Wilson's disease [wil´sunz] a rare progressive disease, inherited as an autosomal recessive trait and due to a defect in metabolism of copper, with accumulation of copper in the liver, brain, kidney, cornea, and other tissues.


Wilson's Disease: Kayser-Fleischer RingWilsons DiseaseWilsons DiseaseWilsons DiseaseWilson's disease is an inherited disorder Wilson’s Disease




Wilson disease (HIM) , Wilson's disease
ウイルソン病、(国試)Wilson病、(国試)肝レンズ核変性症 hepatolenticular degenerationウェストファル-シュトリュンペル病 Westphal-Struempell disease
カイザー・フライシャー角膜輪 Kayser-Fleischer ring, ATP7B



  • 20歳までに発症。早ければ3歳で発症(HIM.2450)。


  • 細胞内銅輸送蛋白の遺伝子異常(ATP-7B)(13q14.3)


  • 十二指腸上部で銅の吸収 → 血行性に肝臓に輸送される → 胆汁内への銅への排泄が障害される → 肝細胞内銅沈着 → 肝細胞細胞障害 → 肝硬変
  • 肝臓内でアポセルロプラスミンに銅を結合する反応の異常(HIM.2450) & セルロプラスミンの合成低下(出典不明。肝機能低下?)  → 血清セルロプラスミン低下 → (正常では血液中に存在する銅の90%がセルロプラスミンに結合しているので)血清銅低下 (HIM.2450)
  • 血液中に入った銅はアルブミンと結合して存在 → 結合能弱くfreeの血清銅増加
 → 血行性に各臓器に移行・沈着 → 脳、角膜、腎臓、血球に障害 (IMD)
 → 尿中への銅排泄増加



  • 食事療法:銅制限食(貝、甲殻類、レバー、ナッツ類、チョコレート、キノコ類、豆類は銅を多く含むので避ける)
  • 薬物療法:銅キレート薬((D-ペニシラミン)の投与。トリエンチン


  • 2. [charged] Pathogenesis and clinical manifestations of Wilson disease - uptodate [1]
  • 3. [charged] Treatment of Wilson disease - uptodate [2]




flapping tremor, asterixis



  [★] ウィルソン

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「Scottish ornithologist in the United States (1766-1813)」
Alexander Wilson

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「Scottish physicist who invented the cloud chamber (1869-1959)」
Charles Thomson Rees Wilson

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「United States entomologist who has generalized from social insects to other animals including humans (born in 1929)」
E. O. Wilson, Edward Osborne Wilson

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「United States literary critic (1895-1972)」
Edmund Wilson

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「author of the first novel by an African American that was published in the United States (1808-1870)」
Harriet Wilson

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「American Revolutionary leader who was one of the signers of the Declaration of Independence (1742-1798)」
James Wilson

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「Canadian geophysicist who was a pioneer in the study of plate tectonics (1908-1993)」
John Tuzo Wilson

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「United States physicist honored for his work on cosmic microwave radiation (born in 1918)」
Robert Woodrow Wilson

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「English writer of novels and short stories (1913-1991)」
Sir Angus Wilson, Angus Frank Johnstone Wilson

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「28th President of the United States; led the United States in World War I and secured the formation of the League of Nations (1856-1924)」
Woodrow Wilson, Thomas Woodrow Wilson, President Wilson

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「a peak in the San Juan mountains of Colorado (14,246 feet high)」
Mount Wilson

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「ウィルソン(Thomas Woodrow Wilson;1856‐1924;米国第28代大統領1913‐21)」



  • v.

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「to make melodious sounds; "The nightingale was singing"」

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「『歌う』;(…に)歌って聞かせる《+『to』(『for』)+『名』》;(楽器に合わせて)歌う《+『to』+『名』》・〈小鳥・虫などが〉『鳴く』,さえずる / 《文》(…を)詩(歌)にする,(詩(歌)を詠んで)賛美する《+『of』+『名』》・〈小川・風・弾丸・湯沸かし・耳などが〉歌うように鳴る・《米語》自白する;密告する・〈歌〉‘を'歌う・《副詞[句]を伴って》歌って…‘を'(…に)する・…‘を'唱える,詠唱する・《文》…‘を'詩(歌)にする,(詩(歌)に詠んで)賛美する・合唱の集い」

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「deliver by singing; "Sing Christmas carols"」

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「produce tones with the voice; "She was singing while she was cooking"; "My brother sings very well"」



  • n.
疾患illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
  • something that is very wrong with people's attitudes, way of life or with society.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意

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「an impairment of health or a condition of abnormal functioning」

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「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

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「女性の話術芸人 =diseur」



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「caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes"」
morbid, pathologic, pathological

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「病気にかかった / 病的な,不健全な(morbid)」



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「the 19th letter of the Roman alphabet」

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「sulfurの化学記号 / {略}South[ern]」