Whatever happened to "neonatal hepatitis"?

Clinics in Liver Disease

Volumn 10, Issue 1, 2006, Pages 27-53

  Balistreri, William F ^a,b   Bezerra, Jorge A ^a,b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OXYSTEROL; STEROID REDUCTASE;

ALAGILLE SYNDROME; ALBRIGHT SYNDROME; CLINICAL FEATURE; DISEASE CLASSIFICATION; EMBRYO DEVELOPMENT; GENETIC ANALYSIS; HEMOSIDEROSIS; HEPATITIS; HUMAN; MEMBRANE TRANSPORT; MOLECULAR DYNAMICS; NIEMANN PICK DISEASE; NONHUMAN; REVIEW;

BILE; CHOLESTASIS, INTRAHEPATIC; DIAGNOSIS, DIFFERENTIAL; HEPATITIS; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; METABOLISM, INBORN ERRORS;

EID: 29244446225     PISSN: 10893261     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cld.2005.10.008     Document Type: Review

References (83)

1. W.F. Balistreri Neonatal cholestasis-medical progress J Pediatr 106 1985 171 184
2. F.J. Suchy, W.F. Balistreri, and J.E. Heubi Physiologic cholestasis: elevation of the primary serum bile acid concentrations in normal infants Gastroenterology 80 1981 1037 1041
3. N. Balasubramaniyan, M.S. Manzoor, and F.J. Suchy Multiple mechanisms of ontogenic regulation of nuclear hormone receptors during rat liver development Am J Physiol Gastrointest Liver Physiol 288 2005 G251 G260
4. E. Jacquemin, P. Lykavieris, and N. Chaoui Transient neonatal cholestasis: origin and outcome J Pediatr 133 1998 564 567
5. D. Herzog, P. Chessex, and S. Martin Transient cholestasis in newborn infants with perinatal asphyxia Can J Gastroenterol 17 2003 179 182
6. A.M. Sant'Anna, J.C. Fouron, and F. Alvarez Neonatal cholestasis associated with fetal arrhythmia J Pediatr 146 2005 277 280
7. A. Brucato, R. Cimez, and M. Stramba-Badiale Neonatal lupus Clin Rev Allergy Immunol 23 2002 279 299
8. L.A. Lee, R.J. Sokol, and J.P. Buyon Hepatobiliary disease in neonatal lupus: prevalence and clinical characteristics in cases enrolled in a national registry Pediatrics 109 2002 E11
9. S. Hannam, D.P. Bogdanos, and E.T. Davies Neonatal liver disease associated with placental transfer of anti-mitochondrial antibodies Autoimmunity 35 2002 545 550
10. W.F. Balistreri, J.A. Bezerra, and P. Jansen Intrahepatic cholestasis: summary of an American Association for the Study of Liver Diseases single-topic conference Hepatology 42 2005 222 235
11. H. Sharp, R.A. Bridges, and W. Krivit Cirrhosis associated with alpha-1-antitrypsin deficiency J Lab Clin Med 73 1969 934 939
12. M. Trauner, and J.L. Boyer Bile salt transporters: molecular characterization, function, and regulation Physiol Rev 83 2003 633 671
13. G.A. Kullak-Ublick, B. Stieger, and P.J. Meier Enterohepatic bile salt transporters in normal physiology and liver disease Gastroenterology 126 2004 322 342
14. H. Higuchi, and G.J. Gores Bile acid regulation of hepatic physiology: IV. Bile acids and death receptors Am J Physiol Gastrointest Liver Physiol 284 2003 G734 G738
15. M.J. Harris, D.G. Le Couteur, and I.M. Arias Progressive familial intrahepatic cholestasis: Genetic disorders of biliary transporters J Gastroenterol Hepatol 20 2005 807 817
16. J.A. Bezerra, and W.F. Balistreri Intrahepatic cholestasis: order out of chaos Gastroenterology 117 1999 1496 1498
17. H.L. Chen, H.L. Chen, and Y.J. Liu Developmental expression of canalicular transporter genes in human liver J Hepatol 43 2005 472 477
18. S.S. Strautnieks, L.N. Bull, and A.S. Knisely A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis Nat Genet 20 1998 233 238
19. R. Wang, M. Salem, and I.M. Yousef Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis Proc Natl Acad Sci USA 98 2001 2011 2016
20. J.A. Byrne, S.S. Strautnieks, and G. Mieli-Vergani The human bile salt export pump: characterization of substrate specificity and identification of inhibitors Gastroenterology 123 2002 1659 1666
21. R. Wang, P. Lam, and L. Liu Severe cholestasis induced by cholic acid feeding in knockout mice of sister of P-glycoprotein Hepatology 38 2003 1489 1499
22. S.W. van Mil, W.L. van der Woerd, and G. van der Brugge Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 Gastroenterology 127 2004 379 384
23. J. Noe, G.A. Kullak-Ublick, and W. Jochum Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis J Hepatol 43 2005 536 543
24. P.F. Whitington, and G.L. Whitington Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis Gastroenterology 95 1988 130 136
25. V.L. Ng, F.C. Ryckman, and G. Porta Long-term outcome following partial external biliary diversion for intractable pruritus in patients with intrahepatic cholestasis J Pediatr Gastroenterol Nutr 30 2000 152 156
26. J.M. De Vree, E. Jacquemin, and E. Sturm Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis Proc Natl Acad Sci U S A 95 1998 282 287
27. J.F. Lucena, J.I. Herrero, and J. Quiroga A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis Gastroenterology 124 2003 1037 1042
28. E. Jacquemin, J.M. De Vree, and D. Cresteil The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood Gastroenterology 120 2001 1448 1458
29. O. Rosmorduc, B. Hermelin, and P.Y. Boelle ABCB4 gene mutation-associated cholelithiasis in adults Gastroenterology 125 2 2003 452 459
30. J.J. Smit, A.H. Schinkel, and R.P. Oude Elferink Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease Cell 75 1993 451 462
31. E. Jacquemin, D. Hermans, and A. Myara Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis Hepatology 25 1997 519 523
32. C.M. Van Nieuwkerk, R.P. Elferink, and A.K. Groen Effects of ursodeoxycholate and cholate feeding on liver disease in FVB mice with a disrupted mdr2 P-glycoprotein gene Gastroenterology 111 1996 165 171
33. P. Durie, G. Kent, and M.J. Phillips Characteristic multiorgan pathology of cystic fibrosis in a long-living cystic fibrosis transmembrane regulator knockout murine model Am J Pathol 164 2004 1481 1493
34. M.P. Curry, and J.E. Hegarty The gallbladder and biliary tract in cystic fibrosis Curr Gastroenterol Rep 7 2 2005 147 153
35. L.W. Klomp, J.C. Vargas, and S.W. van Mil Characterization of mutations in ATP8B1 associated with hereditary cholestasis Hepatology 40 2004 27 38
36. S.W. van Mil, L.W. Klomp, and L.N. Bull FIC1 disease: a spectrum of intrahepatic cholestatic disorders Semin Liver Dis 21 2001 535 544
37. L.W. Klomp, L.N. Bull, and A.S. Knisely A missense mutation in FIC1 is associated with Greenland familial cholestasis Hepatology 32 2000 1337 1341
38. F. Chen, M. Ananthanarayanan, and S. Emre Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity Gastroenterology 126 2004 756 764
39. L. Pawlikowska, A. Groen, and E.F. Eppens A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion Hum Mol Genet 13 2004 881 892
40. R.J. Clayton, F.L. Iber, and B.H. Ruebner Byler disease: fatal familial intrahepatic cholestasis in an Amish kindred J Pediatr 67 1965 1025 1028
41. L.N. Bull, V.E.H. Carlton, and N.L. Stricker Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC1] and Byler syndrome): evidence for heterogeneity Hepatology 26 1997 155 164
42. P.J. Kalicinski, H. Ismail, and I. Jankowska Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass Eur J Pediatr Surg 13 2003 307 311
43. A.C. Kurbegov, K.D. Setchell, and J.E. Haas Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile Gastroenterology 125 2003 1227 1234
44. L. Baala, S. Hadj-Rabia, and D. Hamel-Teillac Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28 J Invest Derm 119 2002 70 76
45. S. Hadj-Rabia, L. Baala, and P. Vabres Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease Gastroenterology 127 2004 1386 1390
46. P. Gissen, C.A. Johnson, and N.V. Morgan Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome Nat Genet 36 2004 400 404
47. O. Aagenaes Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome): new cases and follow-up from infancy to adult age Scand J Gastroenterol 33 1998 335 345
48. L.N. Bull, E. Roche, and E.J. Song Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q Am J Hum Genet 67 2000 994 999
49. M. Fruhwirth, A.R. Janecke, and T. Muller Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome J Pediatr 142 2003 441 447
50. W.F. Balistreri Inborn errors of bile acid biosynthesis and transport-novel forms of metabolic liver disease Gastroenterol Clin North Am 28 1999 145 172
51. K.E. Bove, J.E. Heubi, and W.F. Balistreri Bile acid synthetic defects and liver disease: a comprehensive review Pediatr Dev Pathol 7 2004 315 334
52. D.W. Russell The enzymes, regulation, and genetics of bile acid synthesis Annu Rev Biochem 72 2003 137 174
53. K.D. Setchell, F.J. Suchy, and M.B. Welsh Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis J Clin Invest 82 1988 2148 2157
54. E. Gonzales, D. Cresteil, and C. Baussan SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect J Hepatol 40 2004 716 718
55. J.B. Cheng, E. Jacquemin, and M. Gerhardt Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease J Clin Endocrinol Metab 88 2003 1833 1841
56. M.S. Buchmann, E.A. Kvittingen, and H. Nazer Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism J Clin Invest 86 1990 2034 2037
57. K.D.R. Setchell, M. Schwarz, and N.C. O'Connell Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7a-hydroxylase gene causes severe neonatal liver disease J Clin Invest 102 1998 1690 1703
58. V.E. Carlton, B.Z. Harris, and E.G. Puffenberger Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT Nat Genet 34 2003 91 96
59. D. Alagille, A. Estrada, and M. Hadchouel Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases J Pediatr 110 1987 195 200
60. L. Li, I.D. Krantz, and Y. Deng Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Nat Genet 16 1997 243 251
61. T. Oda, A.G. Elkahloun, and B.L. Pike Mutations in the human Jagged1 gene are responsible for Alagille syndrome Nat Genet 16 1997 235 242
62. N.B. Spinner, R.P. Colliton, and C. Crosnier Jagged1 mutations in Alagille syndrome Hum Mutat 17 2001 18 33
63. Z.R. Yuan, T. Kohsaka, and T. Ikegaya Mutational analysis of the Jagged1 gene in Alagille syndrome families Hum Mol Genet 7 1998 1363 1369
64. B. McCright, J. Lozier, and T. Gridley A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency Development 129 2002 1075 1082
65. K. Lorent, S.Y. Yeo, and T. Oda Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy Development 131 2004 5753 5766
66. S. Lumbroso, F. Paris, C. Sultan European Collaborative Study Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome-a European Collaborative Study J Clin Endocrinol Metab 89 2004 2107 2113
67. P. Chagnon, J. Michaud, and G. Mitchell A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis Am J Hum Genet 71 2002 1443 1449
68. M.J. Phillips, T. Azuma, and S.L. Meredith Abnormalities in villin gene expression and canalicular microvillus structure in progressive cholestatic liver disease of childhood Lancet 362 2003 1112 1119
69. T. Saheki, K. Kobayashi, and M. Iijima Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle Mol Genet Metab 81 Suppl 1 2004 S20 S26
70. T. Ohura, K. Kobayashi, and D. Abukawa A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency Eur J Pediatr 162 2003 317 322
71. A. Tamamori, A. Fujimoto, and Y. Okano Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screen for citrin deficiency Pediatr Res 56 2004 608 614
72. L. Hardy, J.L. Hansen, and J.P. Kushner Neonatal hemochromatosis: genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region Am J Pathol 137 1990 149 153
73. P.F. Whitington, and J.U. Hibbard High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis Lancet 364 2004 1690 1698
74. B. Yerushalmi, R.J. Sokol, and M.R. Narkewicz Niemann-Pick disease type C in neonatal cholestasis at a North American Center J Pediatr Gastroenterol Nutr 35 2002 44 50
75. V. Moyer, D.K. Freese, and P.F. Whitington Guidelines for the evaluation of cholestatic jaundice in infants. Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition J Pediatr Gastroenterol Nutr 39 2004 115 128
76. W.F. Balistreri Bile acid therapy in pediatric hepatobiliary disease: the role of ursodeoxycholic acid J Pediatr Gastroenterol Nutr 24 1997 573 589
77. G. Paumgartner, and U. Beuers Mechanisms of action and therapeutic efficacy of ursodeoxycholic acid in cholestatic liver disease Clin Liver Dis 8 2004 67 81
78. H.U. Marschall, M. Wagner, and G. Zollner Complementary stimulation of hepatobiliary transport and detoxification systems by rifampicin and ursodeoxycholic acid in humans Gastroenterology 129 2005 476 485
79. J.L. Boyer Nuclear receptor ligands: rational and effective therapy for chronic cholestatic liver disease? Gastroenterology 129 2005 735 740
80. P. Lykavieris, S. van Mil, and D. Cresteil Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation J Hepatol 39 2003 447 452
81. H. Egawa, T. Yorifuji, and R. Sumazaki Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin Liver Transpl 8 2002 714 716
82. R.J. Thompson, R.A. Azevdo, and C. Galoppo Cholestatic and metabolic liver disease: working group report of the Second World Congress of Pediatric Gastroenterology, Hepatology and Nutrition J Pediatr Gastroenterol Nutr 39 2004 S611 S615
83. M. Wagner, E. Halilbasic, and H.U. Marschall CAR and PXR agonists stimulate hepatic bile acid and bilirubin detoxification and elimination pathways in mice Hepatology 42 2005 420 430