Gilbert症候群と血液疾患
Gilbert症候群は軽症の遺伝性非抱合型高ビリルビン血症で, ビリルビンUDP-グルクロン酸転移酵素遺伝子 (UGT1A1) の変異により生じる.まれな重症, 中等症のCrigler-Najjar症候群1型, II型と異なり, Gilbert症候群は人口の3～7%に存在するため, さまざまな血液疾患の3～7%にGilbert症候群の合併がみられる.日本人にはGilbert症候群を起こす2つのUGT1A1の遺伝子多型が存在する.エクソン1のG71Rとプロモーター領域にあるTATA boxのA (TA) 7TAAで, おのおのの遺伝子頻度は0.16と0.15である.そのため, Gilbert症候...
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| Published in | 日本小児血液学会雑誌 Vol. 18; no. 6; pp. 601 - 608 |
|---|---|
| Main Authors | , |
| Format | Journal Article |
| Language | Japanese |
| Published |
特定非営利活動法人 日本小児血液・がん学会
31.12.2004
|
| Online Access | Get full text |
| ISSN | 0913-8706 1884-4723 |
| DOI | 10.11412/jjph1987.18.6_601 |
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| Abstract | Gilbert症候群は軽症の遺伝性非抱合型高ビリルビン血症で, ビリルビンUDP-グルクロン酸転移酵素遺伝子 (UGT1A1) の変異により生じる.まれな重症, 中等症のCrigler-Najjar症候群1型, II型と異なり, Gilbert症候群は人口の3～7%に存在するため, さまざまな血液疾患の3～7%にGilbert症候群の合併がみられる.日本人にはGilbert症候群を起こす2つのUGT1A1の遺伝子多型が存在する.エクソン1のG71Rとプロモーター領域にあるTATA boxのA (TA) 7TAAで, おのおのの遺伝子頻度は0.16と0.15である.そのため, Gilbert症候群であるG71RまたはA (TA) 7TAAのホモ接合体や複合ヘテロ接合体のみでなく, おのおのの変異のヘテロ接合体も血液疾患の病像への関与がみられている.近年, 遺伝性球状赤血球症にGilbert症候群が合併すると胆石の発症リスクが上昇したり, 白血病の化学療法時にUGT1A1の変異をもつ患者には間接型高ビリルビン血症が誘発されることが明らかにされてきている.本総説では, Gilbert症候群と血液疾患の関わりをビリルビンUDP-グルクロン酸転移酵素全般をふまえて概説する. |
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| AbstractList | Gilbert症候群は軽症の遺伝性非抱合型高ビリルビン血症で, ビリルビンUDP-グルクロン酸転移酵素遺伝子 (UGT1A1) の変異により生じる.まれな重症, 中等症のCrigler-Najjar症候群1型, II型と異なり, Gilbert症候群は人口の3～7%に存在するため, さまざまな血液疾患の3～7%にGilbert症候群の合併がみられる.日本人にはGilbert症候群を起こす2つのUGT1A1の遺伝子多型が存在する.エクソン1のG71Rとプロモーター領域にあるTATA boxのA (TA) 7TAAで, おのおのの遺伝子頻度は0.16と0.15である.そのため, Gilbert症候群であるG71RまたはA (TA) 7TAAのホモ接合体や複合ヘテロ接合体のみでなく, おのおのの変異のヘテロ接合体も血液疾患の病像への関与がみられている.近年, 遺伝性球状赤血球症にGilbert症候群が合併すると胆石の発症リスクが上昇したり, 白血病の化学療法時にUGT1A1の変異をもつ患者には間接型高ビリルビン血症が誘発されることが明らかにされてきている.本総説では, Gilbert症候群と血液疾患の関わりをビリルビンUDP-グルクロン酸転移酵素全般をふまえて概説する. |
| Author | 丸尾, 良浩 太田, 茂 |
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| Copyright | （社）日本複写権センター |
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| DOI | 10.11412/jjph1987.18.6_601 |
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| References | 1) Berk PD, Wolkoff AW : Bilirubin metabolism and the hyperbilirubinemias. Principles of Internal Medicine 15th ed, Braunwald E, Fauci AS, Kasper DL, et al eds McGraw-Hill New York 2001, 1715-1720 2) Owens D, Evans J : Population studies on Gilbert's syndrome. J Med Genet 12 : 152-156, 1975 34) Takasuna N, Kasai K, Kitano Y, et al : Study of mechanism of diarrhea induced by the new anticancer agent drug irinotecan hydrochloride (CPT-11). Folia Pharmacol Jpn 105 : 447-460, 1995 4) Maruo Y, Iwai M, Mori A, et al : Polymorphism of UDP-glucuronosyltransferase and drug metabolism. Curr Drug Metab (in press 27) del Giudice EM, Perrotta S, Nobili B, et al : Coinheritance of Gilbert syndrome increases the risk for developing gallstone in patients with hereditary spherocytosis. Blood 94 : 2259-2262, 1999 39) Watanabe Y, Nakajima M, Ohashi N, et al : Glucuronidation of etoposide in human liver microsome is specifically catalyzed by UDP-glucuronosyltransferase1A1. Drug Metab Dispos 31 : 589-595, 2003 36) Lyer L, King CD, Whitington PF, et al : Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsome. J Clin Invest 101 : 847-854, 1998 26) Newman TB, Easterling MJ, Goldman ES, et al : Laboratory evaluation of jaundice in newborns. Am J Dis Child 144 : 364-368, 1990 29) Sharma S, Vukelja SJ, Kadakia S : Gilbert's syndrome co-existing with and masking hereditary spherocytosis. Ann Hematol 74 : 287-289, 1997 15) Aono S, Yamada Y, Keino H, et al : A new type of defect in the gene for bilirubin uridine -diphosphate-glucuronosyltransferase in a patinet with Crigler-Najjar syndrome type I. Pediatr Res 35 : 629-632, 1994 40) Kishi S, Yang W, Boureau B, et al : Effect of prednisone and genetic polymorphisms on etposide disposition in children with acute lymphoblastic leukemia. Blood 103 : 67-72, 2004 8) King CD, Rois GR, Green MD, et al : UDP-glucuronosyltransferase. Curr Drug Metab 1 : 143-161, 2000 13) Ruggiero G, Utili R, Pasquale G : Value of a low-carolic diet in the diagnosis of Gilbert's syndrome. Minerva Med 10 : 471-472, 1975 37) Iyer L, Hall D, Das S, et al : Phenotype-genotype correlation of in vitro SN-3 8 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter ploymorphism. Clin Pharm Ther 65 : 576-582, 1999 18) Maruo Y, Poon KK-H, Ito M, et al : Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. Clin Genet 64 : 420-423, 2003 20) Beutler E, Gelbart T, Demina A : Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter : A balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 95 : 8170-8174, 1998 23) Sugatani J, Kojima H, Ueda A, et al : The phenobarbital response enhancer module in the human bilirubin UDP-glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR. Hepatology 33 : 1232-1238, 2001 33) Maruo Y, Sato H, Bamba N, et al : Chemotherapyinduced unconjugated hyperbilirubinemia caused by a mutation of the bilirubin uridine-5' -diphosphateglucuronosyltransferase gene. J Pediatr Hematol Oncol 23 : 45-47, 2001 41) Zucker SD, Qin X, Rouster SD, et al : Mechanism of indinavir-induced hyperbilirubinema. Proc Natl Acad Sci USA 98 : 12671-12676, 2001 7) Gong QH, Cho JW, Huang T, et al : Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. Pharmacogenetics 11 : 357-368, 2001 21) Yamamoto K, Sato H, Fujiyama, et al : Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glucuronosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim Biophys Acta 1406 : 267-273, 1998 31) Galanello R, Cipollina MD, Carboni G, et al : Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert syndrome. Eur J Pediatr 158 : 914-916, 1999 35) Ando Y, Saka H, Ando M, et al : Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity : A phrmacogenetic analysis. Cancer Res 60 : 6921-6926, 2000 10) Maruo Y, Nishizawa K, Sato H, et al : Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene. Pediatircs e59 : 106, 2000 12) Maruo Y, Serdaroglu E, Iwai M, et al : A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type I. J Pediatr Gastroenterol Nutr 37 : 627-630, 2003 30) lolascon A, Faienza MF, Giordani L, et al : Bilirubin levels in the acute hemolytic crisis of G6PD deficiency are related to Gilbert's syndrome. Eur J Haematol 62 : 307-310, 1999 5) Bosma PJ, Seppen J, Goldhoorn B, et al : Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Bilo Chem 269 : 17960-17964, 1994 28) Tamary. H, Aviner S, Freud E, et al : High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis. J Pediatr Hematol Oncol 25 : 952-954, 2003 17) Maruo Y, Sato H, Yamano T, et al : Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene. J Pediatr 132 : 1045-1047, 1998 6) Mackenzie PI, Owens IS, Burchell B, et al : The UDP glycosyltransferase gene superfamily : Recommended nomenclature update based on evolutionary divergence. Pharmacogenetics 7 : 225-269, 1997 3) Ritter JK, Crawford JM, Owens IS : Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNA with expression in COS-1 cells. J Biol Chem 266 : 1043-1047, 1991 16) Aono S, Yamada Y, Keino H, et al : Identification of de-fect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 30 : 1239-1244, 1993 19) Bosma PJ, Chowdhury JR, Bakker C, et al : The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333 : 1171-1175, 1995 25) Ishihara T, Gabazza E, Adachi Y, et al : Genetic Basis of Fasting Hyperbilirubinemia. Gastroenterology 116 : 1272, 1999 14) 成田努, 丸尾良浩, 佐藤浩, 他 : 脳炎の経過中, 絶食を契機に発見された複合型ヘテロ接合体変異によるGilbert症候群の一例.小児科臨床55 : 113-117, 1999 32) Sampietro M, Lupica L, Perrreo L, et al : The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassemia and in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol 99 : 437-439, 1997 38) Innocenti F, Iyer L, Ratain MJ : Pharmacogenetics : A tool for indivisualizing antineoplastic therapy. Clin Pharmacokinetics 39 : 315-325, 2000 9) Maruo Y, Nishizawa K, Sato H, et al : Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 103 : 1224-1227, 1999 22) Kadakol A, Ghosh SS, Sappal BS, et al : Genetic lesion of bilirubin uridine-diphospho-glucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes : Correlation of genotype and phenotype. Hum Mutat 16 : 297-306, 2000 11) Arias IM, Gartner LM, Cohen M, et al : Choronic nonhemolytic unconjugated hyperbilirubinemia with Glucuronosyl transferase deficiency. Am J Med 47 : 395-409, 1969 24) Sugatani J, Yamakawa K, Yoshinari K, et al : Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun 292 : 492-497, 2002 |
| References_xml | – reference: 10) Maruo Y, Nishizawa K, Sato H, et al : Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene. Pediatircs e59 : 106, 2000 – reference: 8) King CD, Rois GR, Green MD, et al : UDP-glucuronosyltransferase. Curr Drug Metab 1 : 143-161, 2000 – reference: 38) Innocenti F, Iyer L, Ratain MJ : Pharmacogenetics : A tool for indivisualizing antineoplastic therapy. Clin Pharmacokinetics 39 : 315-325, 2000 – reference: 3) Ritter JK, Crawford JM, Owens IS : Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNA with expression in COS-1 cells. J Biol Chem 266 : 1043-1047, 1991 – reference: 14) 成田努, 丸尾良浩, 佐藤浩, 他 : 脳炎の経過中, 絶食を契機に発見された複合型ヘテロ接合体変異によるGilbert症候群の一例.小児科臨床55 : 113-117, 1999 – reference: 5) Bosma PJ, Seppen J, Goldhoorn B, et al : Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Bilo Chem 269 : 17960-17964, 1994 – reference: 11) Arias IM, Gartner LM, Cohen M, et al : Choronic nonhemolytic unconjugated hyperbilirubinemia with Glucuronosyl transferase deficiency. Am J Med 47 : 395-409, 1969 – reference: 41) Zucker SD, Qin X, Rouster SD, et al : Mechanism of indinavir-induced hyperbilirubinema. Proc Natl Acad Sci USA 98 : 12671-12676, 2001 – reference: 1) Berk PD, Wolkoff AW : Bilirubin metabolism and the hyperbilirubinemias. Principles of Internal Medicine 15th ed, Braunwald E, Fauci AS, Kasper DL, et al eds McGraw-Hill New York 2001, 1715-1720 – reference: 16) Aono S, Yamada Y, Keino H, et al : Identification of de-fect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 30 : 1239-1244, 1993 – reference: 4) Maruo Y, Iwai M, Mori A, et al : Polymorphism of UDP-glucuronosyltransferase and drug metabolism. Curr Drug Metab (in press) – reference: 18) Maruo Y, Poon KK-H, Ito M, et al : Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. Clin Genet 64 : 420-423, 2003 – reference: 22) Kadakol A, Ghosh SS, Sappal BS, et al : Genetic lesion of bilirubin uridine-diphospho-glucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes : Correlation of genotype and phenotype. Hum Mutat 16 : 297-306, 2000 – reference: 6) Mackenzie PI, Owens IS, Burchell B, et al : The UDP glycosyltransferase gene superfamily : Recommended nomenclature update based on evolutionary divergence. Pharmacogenetics 7 : 225-269, 1997 – reference: 7) Gong QH, Cho JW, Huang T, et al : Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. Pharmacogenetics 11 : 357-368, 2001 – reference: 29) Sharma S, Vukelja SJ, Kadakia S : Gilbert's syndrome co-existing with and masking hereditary spherocytosis. Ann Hematol 74 : 287-289, 1997 – reference: 25) Ishihara T, Gabazza E, Adachi Y, et al : Genetic Basis of Fasting Hyperbilirubinemia. Gastroenterology 116 : 1272, 1999 – reference: 36) Lyer L, King CD, Whitington PF, et al : Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsome. J Clin Invest 101 : 847-854, 1998 – reference: 12) Maruo Y, Serdaroglu E, Iwai M, et al : A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type I. J Pediatr Gastroenterol Nutr 37 : 627-630, 2003 – reference: 19) Bosma PJ, Chowdhury JR, Bakker C, et al : The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333 : 1171-1175, 1995 – reference: 26) Newman TB, Easterling MJ, Goldman ES, et al : Laboratory evaluation of jaundice in newborns. Am J Dis Child 144 : 364-368, 1990 – reference: 28) Tamary. H, Aviner S, Freud E, et al : High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis. J Pediatr Hematol Oncol 25 : 952-954, 2003 – reference: 40) Kishi S, Yang W, Boureau B, et al : Effect of prednisone and genetic polymorphisms on etposide disposition in children with acute lymphoblastic leukemia. Blood 103 : 67-72, 2004 – reference: 2) Owens D, Evans J : Population studies on Gilbert's syndrome. J Med Genet 12 : 152-156, 1975 – reference: 34) Takasuna N, Kasai K, Kitano Y, et al : Study of mechanism of diarrhea induced by the new anticancer agent drug irinotecan hydrochloride (CPT-11). Folia Pharmacol Jpn 105 : 447-460, 1995 – reference: 13) Ruggiero G, Utili R, Pasquale G : Value of a low-carolic diet in the diagnosis of Gilbert's syndrome. Minerva Med 10 : 471-472, 1975 – reference: 24) Sugatani J, Yamakawa K, Yoshinari K, et al : Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun 292 : 492-497, 2002 – reference: 20) Beutler E, Gelbart T, Demina A : Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter : A balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 95 : 8170-8174, 1998 – reference: 33) Maruo Y, Sato H, Bamba N, et al : Chemotherapyinduced unconjugated hyperbilirubinemia caused by a mutation of the bilirubin uridine-5' -diphosphateglucuronosyltransferase gene. J Pediatr Hematol Oncol 23 : 45-47, 2001 – reference: 27) del Giudice EM, Perrotta S, Nobili B, et al : Coinheritance of Gilbert syndrome increases the risk for developing gallstone in patients with hereditary spherocytosis. Blood 94 : 2259-2262, 1999 – reference: 9) Maruo Y, Nishizawa K, Sato H, et al : Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 103 : 1224-1227, 1999 – reference: 21) Yamamoto K, Sato H, Fujiyama, et al : Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glucuronosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim Biophys Acta 1406 : 267-273, 1998 – reference: 31) Galanello R, Cipollina MD, Carboni G, et al : Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert syndrome. Eur J Pediatr 158 : 914-916, 1999 – reference: 17) Maruo Y, Sato H, Yamano T, et al : Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene. J Pediatr 132 : 1045-1047, 1998 – reference: 30) lolascon A, Faienza MF, Giordani L, et al : Bilirubin levels in the acute hemolytic crisis of G6PD deficiency are related to Gilbert's syndrome. Eur J Haematol 62 : 307-310, 1999 – reference: 35) Ando Y, Saka H, Ando M, et al : Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity : A phrmacogenetic analysis. Cancer Res 60 : 6921-6926, 2000 – reference: 37) Iyer L, Hall D, Das S, et al : Phenotype-genotype correlation of in vitro SN-3 8 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter ploymorphism. Clin Pharm Ther 65 : 576-582, 1999 – reference: 39) Watanabe Y, Nakajima M, Ohashi N, et al : Glucuronidation of etoposide in human liver microsome is specifically catalyzed by UDP-glucuronosyltransferase1A1. Drug Metab Dispos 31 : 589-595, 2003 – reference: 23) Sugatani J, Kojima H, Ueda A, et al : The phenobarbital response enhancer module in the human bilirubin UDP-glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR. Hepatology 33 : 1232-1238, 2001 – reference: 32) Sampietro M, Lupica L, Perrreo L, et al : The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassemia and in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol 99 : 437-439, 1997 – reference: 15) Aono S, Yamada Y, Keino H, et al : A new type of defect in the gene for bilirubin uridine -diphosphate-glucuronosyltransferase in a patinet with Crigler-Najjar syndrome type I. Pediatr Res 35 : 629-632, 1994 |
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| Snippet | Gilbert症候群は軽症の遺伝性非抱合型高ビリルビン血症で, ビリルビンUDP-グルクロン酸転移酵素遺伝子 (UGT1A1) の変異により生じる.まれな重症, 中等症のCrigler-Najjar症候群1型, II型と異なり, Gilbert症候群は人口の3～7%に存在するため,... |
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| Title | Gilbert症候群と血液疾患 |
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| ispartofPNX | 日本小児血液学会雑誌, 2004/12/31, Vol.18(6), pp.601-608 |
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