先天性銅代謝異常症-Wilson病の分子遺伝学、病態解析及び治療に関する国際的な比較研究
【はじめに】銅は生体内にとって必須の微量元素で, 成人体内に70-100mg存在し, 数多く存在する銅酵素の構成成分である. 食物から吸収された銅は肝臓に運ばれ, 肝細胞で代謝される. 銅代謝において, 肝臓は中心的な役割を果たしている. 正常な肝臓では銅の主な分泌機構は2つあり, 1つは, 胆汁への排出, もう1つはセルロプラスミンとしての血液への排出である[1]. wilson病(WD, OMIM#27790)は常染色体劣性遺伝性の先天性銅代謝異常症である. つまり, 保因者同士が結婚する場合は生まれた子どもがWD患者である可能性は25％, 正常の可能性は25％, 保因者の可能性は50％で...
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| Published in | BIOMEDICAL RESEARCH ON TRACE ELEMENTS Vol. 20; no. 1; pp. 47 - 54 |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本微量元素学会
2009
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| Online Access | Get full text |
| ISSN | 0916-717X 1880-1404 |
| DOI | 10.11299/brte.20.47 |
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| Abstract | 【はじめに】銅は生体内にとって必須の微量元素で, 成人体内に70-100mg存在し, 数多く存在する銅酵素の構成成分である. 食物から吸収された銅は肝臓に運ばれ, 肝細胞で代謝される. 銅代謝において, 肝臓は中心的な役割を果たしている. 正常な肝臓では銅の主な分泌機構は2つあり, 1つは, 胆汁への排出, もう1つはセルロプラスミンとしての血液への排出である[1]. wilson病(WD, OMIM#27790)は常染色体劣性遺伝性の先天性銅代謝異常症である. つまり, 保因者同士が結婚する場合は生まれた子どもがWD患者である可能性は25％, 正常の可能性は25％, 保因者の可能性は50％である. WDは1912年にKinner Wilsonが肝硬変を伴う家族性進行性神経障害の家族例を報告したことに始まる[2]. その後本症の病態は肝臓や脳の銅蓄積であることがわかり[3], 1956年にWalsheによりキレート薬であるペニシラミンの治療が導入された[4]. |
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| AbstractList | 【はじめに】銅は生体内にとって必須の微量元素で, 成人体内に70-100mg存在し, 数多く存在する銅酵素の構成成分である. 食物から吸収された銅は肝臓に運ばれ, 肝細胞で代謝される. 銅代謝において, 肝臓は中心的な役割を果たしている. 正常な肝臓では銅の主な分泌機構は2つあり, 1つは, 胆汁への排出, もう1つはセルロプラスミンとしての血液への排出である[1]. wilson病(WD, OMIM#27790)は常染色体劣性遺伝性の先天性銅代謝異常症である. つまり, 保因者同士が結婚する場合は生まれた子どもがWD患者である可能性は25％, 正常の可能性は25％, 保因者の可能性は50％である. WDは1912年にKinner Wilsonが肝硬変を伴う家族性進行性神経障害の家族例を報告したことに始まる[2]. その後本症の病態は肝臓や脳の銅蓄積であることがわかり[3], 1956年にWalsheによりキレート薬であるペニシラミンの治療が導入された[4]. |
| Author | 顧 艶紅 |
| Author_xml | – sequence: 1 fullname: 顧 艶紅 organization: 国立成育医療センター研究所成育政策科学研究部帝京大学医学部 |
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| Copyright | 2009 日本微量元素学会 |
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| DOI | 10.11299/brte.20.47 |
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| References_xml | – reference: 2) Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34: 295-507, 1912. – reference: 4) Walshe JM. Penicillamine, a new oral therapy for Wilson's disease. Am J Med 21: 487-495, 1956. – reference: 39) 工藤英昭,有馬正高:D-penicillamine療法と小児期Wilson病の予後.小児科臨床40: 371-376, 1987. – reference: 56) Buffet C, Servent L, Pelletier G, Rondot P, Etienne JP. Hepatocellular carcinoma in Wilson's disease. Gastroenterol Clin Biol. 8: 681-682, 1984. French. – reference: 70) Staib F, Hussain SP, Hofseth LJ, Wang XW, Harris CC. TP53 and liver carcinogenesis. Hum Mutat 21: 201-216, 2003. – reference: 7) Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz L M, Cayanis E, Vitale E, Russo JJ, Matseoane D, Boukhgalter B, Wasco W, Figus AL, Loudianos J, Cao A, Sternlieb I, Evgrafov O, Parano 7, Pavone L, Warburton D, Ott J, Penchaszadeh GK, Scheinberg IH, Gilliam TC. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nature Genet 5: 338-343, 1993. – reference: 47) Madden JW, Ironside JW, Triger DR, Bradshaw JP. An unusual case of Wilson's disease. Q J Med 55: 63-73, 1985. – reference: 25) Schiefermeier M, Kollegger H, Madl C, Polli C, Oder W, Kuhn H, Berr F, Ferenci P. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 123:585-590, 2000. – reference: 31) Takeshita Y, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, Aoki T. Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet. 47: 543-547, 2002. – reference: 42) 顧 艶紅,児玉浩子,佐藤映美,水沼真紀子,森 庸祐,中里 豊:生検肝サンプルの銅濃度測定の注意点. Minophagen Med Review 48: 29, 2003. – reference: 40) 青木継稔:ウィルソン病治療と患者QOL.日本医事新報No3939: 26-32, 1999. – reference: 58) Walshe JM, Waldenströ m E, Sams V, Nordlinder H, Westermark K. Abdominal malignancies in patients with Wilson's disease. QJM 96: 657-662, 2003. – reference: 44) Kamakura K, Kimura S, Igarashi S, Fujiwara K, Toshitsugu O. A case of Wilson's disease with hepatoma. Nippon Naika Gakkai Zasshi 64: 232-238, 1975. Japanese. – reference: 38) Du SL, Leng T, Gu YH, Ushijima H, Kodama Hiroko. Long-term treatment with high-dose zinc sulphate in 36 children with Wilson's disease. Biomed Res Trace Elements 13: 85-88, 2002. – reference: 17) Yamaguchi A, Matsuura A, Arashima S, Kikuchi Y, Kikuchi K. Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. Hum Mutat 1: S320-S322, 1998. – reference: 21) Gu YH, Kodama H, Du SL, Gu QJ, Sun HJ, Ushijima H. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese patients Han and Hui ethnic patients with Wilson's disease. Clin Genet 64: 479-484, 2003. – reference: 30) Gu YH, Kodama H, Du SL. Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L. Brain Dev. 27: 551-553, 2005. – reference: 13) Reilly M, Daly L, Hutchinson M. An epidemiological study of Wilson's disease in the Republic of Ireland. J Neurol Neurosurg Psychiatry 56: 298-300, 1993. – reference: 19) García-Villarreal L, Daniels S, Shaw SH, Cotton D, Galvin M, Geskes J, Bauer P, Sierra-Hernández A, Buckler A, Tugores A. High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. Hepatology. 32:1329-1336, 2000. – reference: 12) Olivarez L, Caggana M, Pass KA, Ferguson P, Brewer GJ. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. 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| Title | 先天性銅代謝異常症-Wilson病の分子遺伝学、病態解析及び治療に関する国際的な比較研究 |
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