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Volumn 12, Issue 2, 1998, Pages 355-367

The hereditary hyperbilirubinaemias

Author keywords

Bilirubin diphosphate glucuronosyltransferase; Copropoxphyrin, isomers; Crigler Najjar syndromes; Dubin johnson syndrome; Gilbert's syndrome; Kernicterus; Liver transplantation; ; Rotor syndrome; TATA box

Indexed keywords

3 INDOLEMETHANOL; BILIRUBIN; BIOCHEMICAL MARKER; PHENOBARBITAL;

EID: 0031704962     PISSN: 09503528     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0950-3528(98)90139-7     Document Type: Article
Times cited : (13)

References (47)
  • 1
    • 0016815484 scopus 로고
    • Biliary excretion of conjugated sulfobromophthalein (BSP) in constitutional conjugated hyperbilirubinemias
    • Abe H & Okuda K (1975) Biliary excretion of conjugated sulfobromophthalein (BSP) in constitutional conjugated hyperbilirubinemias. Digestion 13: 272-283.
    • (1975) Digestion , vol.13 , pp. 272-283
    • Abe, H.1    Okuda, K.2
  • 2
    • 0018534282 scopus 로고
    • The pigment in Dubin-Johnson syndrome
    • Arias IM & Blumberg W (1979) The pigment in Dubin-Johnson syndrome. Gastroenterology 77: 820-821.
    • (1979) Gastroenterology , vol.77 , pp. 820-821
    • Arias, I.M.1    Blumberg, W.2
  • 3
    • 0014579106 scopus 로고
    • Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyltransferase deficiency: Clinical, biochemical, pharmacologic, and genetic evidence for heterogeneity
    • Arias IM, Gartner LM, Cohen M et al (1969) Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyltransferase deficiency: clinical, biochemical, pharmacologic, and genetic evidence for heterogeneity. American Journal of Medicine 47: 395-409.
    • (1969) American Journal of Medicine , vol.47 , pp. 395-409
    • Arias, I.M.1    Gartner, L.M.2    Cohen, M.3
  • 4
    • 0016637096 scopus 로고
    • Comparison of treatments for congenital nonobstructive nonhaemolitic hyperbilirubinaemia
    • Arrowsmith WA, Payne RB & Littlewood JM (1975) Comparison of treatments for congenital nonobstructive nonhaemolitic hyperbilirubinaemia. Archives of Disease in Childhood 50: 97-201.
    • (1975) Archives of Disease in Childhood , vol.50 , pp. 97-201
    • Arrowsmith, W.A.1    Payne, R.B.2    Littlewood, J.M.3
  • 6
    • 0014986702 scopus 로고
    • Abnormal excretion of the isomers of urinary coproporphyrin by patients with Dubin-Johnson syndrome in Israel
    • Ben-Ezzer J, Remington C, Shani M et al (1971) Abnormal excretion of the isomers of urinary coproporphyrin by patients with Dubin-Johnson syndrome in Israel. Clinical Science 40: 17-30.
    • (1971) Clinical Science , vol.40 , pp. 17-30
    • Ben-Ezzer, J.1    Remington, C.2    Shani, M.3
  • 7
    • 0014852793 scopus 로고
    • Constitutional hepatic dysfunction (Gilbert's syndrome): A new definition based on kinetics with unconjugated radiobilirubin
    • Berk PD, Bloomer JR, Howe RB & Berlin NI (1970) Constitutional hepatic dysfunction (Gilbert's syndrome): a new definition based on kinetics with unconjugated radiobilirubin. American Journal of Medicine 49: 296-305.
    • (1970) American Journal of Medicine , vol.49 , pp. 296-305
    • Berk, P.D.1    Bloomer, J.R.2    Howe, R.B.3    Berlin, N.I.4
  • 8
    • 0028867826 scopus 로고
    • The genetic basis of the reduced expression of bilirubin UDP-glucuronyltransferase 1 in Gilbert's syndrome
    • Bosma PJ, Chowdhury JR, Bakker C et al (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronyltransferase 1 in Gilbert's syndrome. New England Journal of Medicine 333: 1171-1175.
    • (1995) New England Journal of Medicine , vol.333 , pp. 1171-1175
    • Bosma, P.J.1    Chowdhury, J.R.2    Bakker, C.3
  • 11
    • 13144274005 scopus 로고
    • Disruption of microtubules result in prolonged persistence and expression of genes targeted to the liver in vivo by receptor-mediated endocytosis
    • Chowdhury JR, Hays RM, Wu CH et al (1993) Disruption of microtubules result in prolonged persistence and expression of genes targeted to the liver in vivo by receptor-mediated endocytosis. Gastroenterology 104: A981.
    • (1993) Gastroenterology , vol.104
    • Chowdhury, J.R.1    Hays, R.M.2    Wu, C.H.3
  • 12
    • 0015356127 scopus 로고
    • Pregnancy, oral contraceptives, and chronic familial jaundice with predominantly conjugated hyperbilirubinemia (Dubin-Johnson syndrome)
    • Cohen L, Lewis C & Arias IM (1972) Pregnancy, oral contraceptives, and chronic familial jaundice with predominantly conjugated hyperbilirubinemia (Dubin-Johnson syndrome). Gastroenterology 62: 1182-1190.
    • (1972) Gastroenterology , vol.62 , pp. 1182-1190
    • Cohen, L.1    Lewis, C.2    Arias, I.M.3
  • 13
    • 0001438682 scopus 로고
    • Congenital familial non-hemolytic jaundice with kernicterus
    • Crigler JF & Najjar VA (1952) Congenital familial non-hemolytic jaundice with kernicterus. Pediatrics 10: 169-180.
    • (1952) Pediatrics , vol.10 , pp. 169-180
    • Crigler, J.F.1    Najjar, V.A.2
  • 14
    • 0000552161 scopus 로고
    • Chronic idiopathic jaundice with unidentified pigment in liver cells: A new clinicopathologic entity with a report of 12 cases
    • Dubin IN & Johnson FB (1954) Chronic idiopathic jaundice with unidentified pigment in liver cells: a new clinicopathologic entity with a report of 12 cases. Medicine 33: 155-197.
    • (1954) Medicine , vol.33 , pp. 155-197
    • Dubin, I.N.1    Johnson, F.B.2
  • 16
    • 13144286623 scopus 로고
    • Human ligandin: Characterization and quantitation
    • Fleischner G, Kamisaka K, Habig W et al (1975) Human ligandin: characterization and quantitation. Gastroenterology 69: 821.
    • (1975) Gastroenterology , vol.69 , pp. 821
    • Fleischner, G.1    Kamisaka, K.2    Habig, W.3
  • 17
    • 8044223564 scopus 로고
    • Constitutional hepatic dysfunction (Gilbert's syndrome): Its natural history and related syndromes
    • Foulk WT, Butt HR, Owen CA et al (1959) Constitutional hepatic dysfunction (Gilbert's syndrome): its natural history and related syndromes. Medicine 38: 25-46.
    • (1959) Medicine , vol.38 , pp. 25-46
    • Foulk, W.T.1    Butt, H.R.2    Owen, C.A.3
  • 18
    • 0026517719 scopus 로고
    • Suppression of bilirubin production in the Crigler-Najjar type I syndrome: Studies with the haeme oxygenase inhibitor tin-mesoporphyrin
    • Galbraith RA, Drummond GS & Kappas A (1992) Suppression of bilirubin production in the Crigler-Najjar type I syndrome: studies with the haeme oxygenase inhibitor tin-mesoporphyrin. Pediatrics 89: 175-182.
    • (1992) Pediatrics , vol.89 , pp. 175-182
    • Galbraith, R.A.1    Drummond, G.S.2    Kappas, A.3
  • 20
    • 0029889899 scopus 로고    scopus 로고
    • The use of jejunal transplants to treat a genetic enzyme deficiency
    • Jaffe BM, Burgos AA & Martinez-Noack M (1996) The use of jejunal transplants to treat a genetic enzyme deficiency. Annals of Surgery 223: 649-657.
    • (1996) Annals of Surgery , vol.223 , pp. 649-657
    • Jaffe, B.M.1    Burgos, A.A.2    Martinez-Noack, M.3
  • 22
    • 0029986408 scopus 로고    scopus 로고
    • Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in the Dubin-Johnson syndrome
    • Kartenbeck J, Leuschner U, Mayer R & Keppler D (1996) Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in the Dubin-Johnson syndrome. Hepatology 23: 1061-1066.
    • (1996) Hepatology , vol.23 , pp. 1061-1066
    • Kartenbeck, J.1    Leuschner, U.2    Mayer, R.3    Keppler, D.4
  • 23
    • 0026603027 scopus 로고
    • Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type I disease
    • Labrune PH, Myara A, Francoual J et al (1992) Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type I disease. Pediatrics 89: 768-770.
    • (1992) Pediatrics , vol.89 , pp. 768-770
    • Labrune, P.H.1    Myara, A.2    Francoual, J.3
  • 24
    • 0023220512 scopus 로고
    • Abnormally high values for direct bilirubin in the serum of newborns as measured with the DuPont aca
    • Mair B & Klempner LB (1987) Abnormally high values for direct bilirubin in the serum of newborns as measured with the DuPont aca. American Journal of Clinical Pathology 87: 642-644.
    • (1987) American Journal of Clinical Pathology , vol.87 , pp. 642-644
    • Mair, B.1    Klempner, L.B.2
  • 25
    • 0023037846 scopus 로고
    • Allogenic hepatocyte transplantation in the rat spleen under cyclosporin immunosuppression
    • Makowka L, Lee G, Cobourn CS et al (1986) Allogenic hepatocyte transplantation in the rat spleen under cyclosporin immunosuppression. Transplantation 42: 537-541.
    • (1986) Transplantation , vol.42 , pp. 537-541
    • Makowka, L.1    Lee, G.2    Cobourn, C.S.3
  • 26
    • 0028836447 scopus 로고
    • Correction of congenital indirect hyperbilirubinemia by small intestinal transplantation
    • Medley MM, Hooker RL, Rabinowitz S et al (1995) Correction of congenital indirect hyperbilirubinemia by small intestinal transplantation. American Journal of Surgery 169: 20-27.
    • (1995) American Journal of Surgery , vol.169 , pp. 20-27
    • Medley, M.M.1    Hooker, R.L.2    Rabinowitz, S.3
  • 28
    • 0018662626 scopus 로고
    • Studies on nicotinic acid interaction with bilirubin metabolism
    • Ohkubo H, Musha H & Okuda K (1979) Studies on nicotinic acid interaction with bilirubin metabolism. Digestive Diseases and Sciences 24: 700-704.
    • (1979) Digestive Diseases and Sciences , vol.24 , pp. 700-704
    • Ohkubo, H.1    Musha, H.2    Okuda, K.3
  • 29
    • 0020709837 scopus 로고
    • How should mild, isolated unconjugated hyperbilirubinemia be investigated?
    • Okolicsányi L, Févéry J, Billing BH et al (1983) How should mild, isolated unconjugated hyperbilirubinemia be investigated? Seminars in Liver disease 3: 65-72.
    • (1983) Seminars in Liver Disease , vol.3 , pp. 65-72
    • Okolicsányi, L.1    Févéry, J.2    Billing, B.H.3
  • 31
    • 0014215065 scopus 로고
    • Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families
    • Powell LW, Hemingway E, Billing BH & Sherlock S (1967) Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. New England Journal of Medicine 277: 1108-1112.
    • (1967) New England Journal of Medicine , vol.277 , pp. 1108-1112
    • Powell, L.W.1    Hemingway, E.2    Billing, B.H.3    Sherlock, S.4
  • 32
    • 0026701911 scopus 로고
    • A novel complex locus UGT1 encodes human bilirubin UDP-glucuronosyltransferase isozymes with identical carboxytermini
    • Ritter JK, Chen F, Sheen HM et al (1992) A novel complex locus UGT1 encodes human bilirubin UDP-glucuronosyltransferase isozymes with identical carboxytermini. Journal of Biological Chemistry 267: 3257-3261.
    • (1992) Journal of Biological Chemistry , vol.267 , pp. 3257-3261
    • Ritter, J.K.1    Chen, F.2    Sheen, H.M.3
  • 33
    • 0031054718 scopus 로고    scopus 로고
    • Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I
    • Rosatelli MC, Meloni A, Faà V et al (1997) Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. Journal of Medical Genetics 34: 122-125.
    • (1997) Journal of Medical Genetics , vol.34 , pp. 122-125
    • Rosatelli, M.C.1    Meloni, A.2    Faà, V.3
  • 34
    • 0142033403 scopus 로고
    • Familial nonhemolytic jaundice with direct van den Bergh reaction
    • Rotor AB, Manahan L & Florentin A (1948) Familial nonhemolytic jaundice with direct van den Bergh reaction. Acta Medica Philippina 5: 37-49.
    • (1948) Acta Medica Philippina , vol.5 , pp. 37-49
    • Rotor, A.B.1    Manahan, L.2    Florentin, A.3
  • 35
    • 0029059842 scopus 로고
    • Congenital nonobstructive, nonhemolytic jaundice: Effect of tin-mesoporphyrin
    • Rubaltelli FF, Dario C & Zancan L (1995) Congenital nonobstructive, nonhemolytic jaundice: effect of tin-mesoporphyrin. Pediatrics 95: 942-944.
    • (1995) Pediatrics , vol.95 , pp. 942-944
    • Rubaltelli, F.F.1    Dario, C.2    Zancan, L.3
  • 36
    • 0024427111 scopus 로고
    • Tin-protoporphyrin in the management of children with Crigler-Najjar disease
    • Rubaltelli FF, Guerrini P, Reddi E & Jori G (1989) Tin-protoporphyrin in the management of children with Crigler-Najjar disease. Pediatrics 84: 728-731.
    • (1989) Pediatrics , vol.84 , pp. 728-731
    • Rubaltelli, F.F.1    Guerrini, P.2    Reddi, E.3    Jori, G.4
  • 37
    • 0028106325 scopus 로고
    • Serum and bile bilirubin pigments in the differential diagnosis of Crigler-Najjar disease
    • Rubaltelli FF, Novello A, Zancan L et al (1994) Serum and bile bilirubin pigments in the differential diagnosis of Crigler-Najjar disease. Pediatrics 94: 553-556.
    • (1994) Pediatrics , vol.94 , pp. 553-556
    • Rubaltelli, F.F.1    Novello, A.2    Zancan, L.3
  • 38
    • 0028827696 scopus 로고
    • Gilbert's syndrome - A legitimate genetic anomaly?
    • Schmid R (1995) Gilbert's syndrome - a legitimate genetic anomaly? New England Journal of Medicine 333: 1217-1218.
    • (1995) New England Journal of Medicine , vol.333 , pp. 1217-1218
    • Schmid, R.1
  • 39
    • 0028081366 scopus 로고
    • Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin undine diphosphate-glucuronosyltransferase
    • Seppen J, Bosma PJ, Goldhoorn BG et al (1994) Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin undine diphosphate-glucuronosyltransferase. Journal of Clinical Investigation 94: 2385-2391.
    • (1994) Journal of Clinical Investigation , vol.94 , pp. 2385-2391
    • Seppen, J.1    Bosma, P.J.2    Goldhoorn, B.G.3
  • 40
    • 0014859813 scopus 로고
    • Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases
    • Shani M, Seligsohn U, Gilon E et al (1970) Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. Quarterly Journal of Medicine 39: 549-567.
    • (1970) Quarterly Journal of Medicine , vol.39 , pp. 549-567
    • Shani, M.1    Seligsohn, U.2    Gilon, E.3
  • 42
    • 0026089013 scopus 로고
    • The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis
    • Sinaasappel M & Jansen PLM (1991) The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis. Gastroenterology 100: 783-789.
    • (1991) Gastroenterology , vol.100 , pp. 783-789
    • Sinaasappel, M.1    Jansen, P.L.M.2
  • 43
    • 0027468242 scopus 로고
    • New concepts in bilirubin chemistry, transport and metabolism: Report of the Second International Bilirubin Workshop, April 9-11, 1992, Trieste, Italy
    • Tiribelli C & Ostrow JD (1993) New concepts in bilirubin chemistry, transport and metabolism: report of the Second International Bilirubin Workshop, April 9-11, 1992, Trieste, Italy. Hepatology 17: 715-736.
    • (1993) Hepatology , vol.17 , pp. 715-736
    • Tiribelli, C.1    Ostrow, J.D.2
  • 44
    • 0031046922 scopus 로고    scopus 로고
    • Oral calcium phosphate: A new therapy for Crigler-Najjar disease?
    • van der Veere CN, Jansen PLM, Sinaasappel M et al (1997) Oral calcium phosphate: a new therapy for Crigler-Najjar disease? Gastroenterology 112: 455-462.
    • (1997) Gastroenterology , vol.112 , pp. 455-462
    • Van Der Veere, C.N.1    Jansen, P.L.M.2    Sinaasappel, M.3
  • 45
    • 0027228152 scopus 로고
    • Orthotopic auxiliary liver transplantation for Crigler-Najjar syndrome type I
    • Whitington PF, Emond JC, Heffron T & Thistlethwaite JR (1993) Orthotopic auxiliary liver transplantation for Crigler-Najjar syndrome type I. Lancet 342: 779-780.
    • (1993) Lancet , vol.342 , pp. 779-780
    • Whitington, P.F.1    Emond, J.C.2    Heffron, T.3    Thistlethwaite, J.R.4
  • 46
    • 0028909757 scopus 로고
    • Treatment of Crigler-Najjar type II with small-dose phenobarbital
    • Younoszai ZM & Foroozan P (1995) Treatment of Crigler-Najjar type II with small-dose phenobarbital (letter). Digestive Disease and Sciences 40: 575.
    • (1995) Digestive Disease and Sciences , vol.40 , pp. 575
    • Younoszai, Z.M.1    Foroozan, P.2


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