Crigler-Najjar syndrome

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/03/27 13:39:39」(JST)

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  • Monogenic diseases that can be cured by liver transplantation.
  • Fagiuoli S, Daina E, D'Antiga L, Colledan M, Remuzzi G.SourceGastroenterology and Transplant Hepatology, Ospedale Papa Giovanni XXIII, Bergamo, Italy. Electronic address:
  • Journal of hepatology.J Hepatol.2013 Apr 8. pii: S0168-8278(13)00219-5. doi: 10.1016/j.jhep.2013.04.004. [Epub ahead of print]
  • While the prevalence of most diseases caused by single-gene mutations is low and defines them as rare conditions, all together, monogenic diseases account for approximately 10 in every 1.000 births according to the World Health Organisation. Orthotopic liver transplantation (LT) could offer a therap
  • PMID 23578885
  • Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
  • Canu G, Minucci A, Zuppi C, Capoluongo E.SourceLaboratory of Clinical Molecular Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Italy.
  • Blood cells, molecules & diseases.Blood Cells Mol Dis.2013 Apr;50(4):273-80. doi: 10.1016/j.bcmd.2013.01.003. Epub 2013 Feb 9.
  • UGT1A1 enzyme defects are responsible of both Gilbert syndrome (GS) and Crigler-Najjar syndrome (CNS). GS depends on a variant TATAA element (which contains two extra TA nucleotides as compared to the wild type genotype) in the UGT1A1 gene promoter resulting in a reduced gene expression. On the cont
  • PMID 23403257
  • Increased Reprogramming of Human Fetal Hepatocytes Compared With Adult Hepatocytes in Feeder-Free Conditions.
  • Hansel MC, Gramignoli R, Blake W, Davila J, Skvorak K, Dorko K, Tahan V, Lee BR, Tafaleng E, Guzman-Lepe J, Soto-Gutierrez A, Fox IJ, Strom SC.AbstractHepatocyte transplantation has been used to treat liver disease. The availability of cells for these procedures is quite limited. Human embryonic stem cells (hESCs) and inducedpluripotent stem cells (hiPSCs) may be a useful source of hepatocytes for basic research and transplantation if efficient and effective differentiation protocols were developed and problems with tumorigenicity could be overcome. Recent evidence suggests that the cell of origin may affect hiPSC differentiation. Thus, hiPSCs generated from hepatocytes may differentiate back to hepatocytes more efficiently than hiPSCs from other cell types. We examined the efficiency of reprogramming adult and fetal human hepatocytes. The present studies report the generation of 40 hiPSC lines from primary human hepatocytes under feeder-free conditions. Of these, 37 hiPSC lines were generated from fetal hepatocytes, 2 hiPSC lines from normal hepatocytes and 1 hiPSC line from hepatocytes of a patient with Crigler-Najjar Syndrome, Type-1. All lines were confirmed reprogrammed and expressed markers of pluripotency by gene expression, flow cytometry, immunocytochemistry, and teratoma formation. Fetal hepatocytes were reprogrammed at a frequency over 50-fold higher than adult hepatocytes. Adult hepatocytes were only reprogrammed with 6 factors, while fetal hepatocytes could be reprogrammed with 3 (OCT4, SOX2, NANOG) or 4 factors (OCT4, SOX2, NANOG, LIN28 or OCT4, SOX2, KLF4, C-MYC). The increased reprogramming efficiency of fetal cells was not due to increased transduction efficiency or vector toxicity. These studies confirm that hiPSCs can be generated from adult and fetal hepatocytes including those with genetic diseases. Fetal hepatocytes reprogram much more efficiently than adult, although both could serve as useful sources of hiPSC-derived hepatocytes for basic research or transplantation.
  • Cell transplantation.Cell Transplant.2013 Feb 4. [Epub ahead of print]
  • Hepatocyte transplantation has been used to treat liver disease. The availability of cells for these procedures is quite limited. Human embryonic stem cells (hESCs) and inducedpluripotent stem cells (hiPSCs) may be a useful source of hepatocytes for basic research and transplantation if efficient an
  • PMID 23394081


  • Gilbert 症候群と血液疾患
  • 丸尾 良浩,太田 茂
  • 日本小児血液学会雑誌 18(6), 601-608, 2004-12-31
  • NAID 10014291451
  • Modulation of organic anion transporting polypeptide 1 and multidrug resistance protein 3 expression in the liver and kidney of Gunn rats
  • HIGUCHI Kunihiro,KOBAYASHI Yoshinao,KURODA Makoto,TANAKA Yuji,ITANI Toshio,ARAKI Jun,MIFUJI Rumi,KAITO Masahiko,ADACHI Yukihiko
  • Hepatology research : the official journal of the Japan Society of Hepatology 29(1), 60-66, 2004-05-01
  • NAID 10018024061


Causes Crigler-Najjar syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the ...
Crigler‐Najjar 症候群 Crigler‐Najjar syndrome 「概念」 glucuronyltransferase 酵素活性の欠損。 1型は完全に欠損、2型は10%以下に欠損。 鑑別に、フェノバルビタールによる酵素誘導。 1型では誘導されないが、2型では誘導される。






Crigler-Najjar syndrome


  • グルクロニルトランスフェラーゼの機能欠損。
  • 原因遺伝子は2q37.1に座乗するUGT1A1遺伝子である。この遺伝子がコードするUDP-グルクロノシルトランスフェラーゼ(UDP-glucuronosyltransferase ,UDPGT)は間接ビリルビンにグルクロン酸抱合を行い直接ビリルビンに変換する。
  • I型ではUDP-グルクロノシルトランスフェラーゼが完全に機能欠損し、II型は活性が低下したものである。



  • フェノバルビタール投与によりビリルビン濃度の変化により分類される。  ←  フェノバルビタールによりUDP-グルクロノシルトランスフェラーゼの発現が誘導される、らしい。
  • I型:フェノバルビタール投与で変化なし。
  • I型:フェノバルビタール投与でビリルビン低下。


  • 間接ビリルビンが上昇。
  • I型
  • 生後まもなく間接ビリルビン上昇により核黄疸に至る。
  • 予後不良
  • II型
  • UDP-グルクロノシルトランスフェラーゼの活性は正常人の1/10以下であるが、予後良好。


  • I型:光線療法、肝移植
  • II型:光線療法、フェノバルビタール、肝移植?

体質性黄疸 (IMD.875)

体質性黄疸 遺伝形式* ビリルビン型 ビリルビン値 予後
Crigler-Najjar症候群I型 常染色体劣性 間接型(非抱合) 21-31mg/dl 致死的
Crigler-Najjar症候群II型 常染色体劣性 8-18mg/dl 良好
Gilbert症候群 常染色体優性 <6mg/dl きわめて良好
Dubin-Johnson症候群 常染色体劣性 直接型(抱合) 2-5(-25)mg/dl きわめて良好
Rotor症候群 常染色体劣性 2-5(-20)mg/dl きわめて良好





  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(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」