The intrahepatic cholangiopathies

Seminars in Liver Disease

Volumn 18, Issue 3, 1998, Pages 263-269

  Birnbaum, Audrey ^a   Suchy, Frederick J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Alagille syndrome; Congenital hepatic fibrosis; Non syndrome bile duct paucity; Polycistic kidney disease

Indexed keywords

BICARBONATE; BOMBESIN; CYCLIC AMP; SECRETIN; SOMATOSTATIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; VASOACTIVE INTESTINAL POLYPEPTIDE;

ALAGILLE SYNDROME; BILE DUCT ATRESIA; BILE DUCT DISEASE; BILE SECRETION; BILIARY TRACT INFECTION; CHILDHOOD DISEASE; HUMAN; INTRAHEPATIC BILE DUCT; KIDNEY POLYCYSTIC DISEASE; LIVER CELL; LIVER TRANSPLANTATION; NONHUMAN; PATHOPHYSIOLOGY; PORTAL HYPERTENSION; PRIORITY JOURNAL; REVIEW;

EID: 0031665829     PISSN: 02728087     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-1007162     Document Type: Review

References (77)

1. Terada T, Kitamura Y, Nakanuma T. Normal and abnormal development of the human intrahepatic biliary system: a review. Tohoku-J-Exp-Med 1997;181:19-32
2. Zaret KS Molecular genetics of early liver development. Annu Rev Physiol 1996;58:231-251
3. Zaret K. Genes that control the formation of the liver. Hepatology 1994;19:794-796 issn: 0270-9139
4. Cocjin J, Rosenthal P, Buslon V, et al. Bile ductule formation in fetal, neonatal, and infant livers compared with extrahepatic biliary atresia. Hepatology 1996,24:568-574
5. Tan CE, Moscoso GJ The developing human biliary system at the porta hepatis level between 11 and 25 weeks of gestation: a way to understanding biliary atresia. Part 2. Pathol-Int 1994;44: 600-610
6. Tan CE, Moscoso GJ. The developing human biliary system at the porta hepatis level between 29 days and 8 weeks of gestation: a way to understanding biliary atresia. Part 1. Pathol-Int 1994;44:587-599
7. Blankenberg TA, Lund JK, Ruebner BH. Normal and abnormal development of human intrahepatic bile ducts. An immunohistochemical perspective. Perspect Pediatr Pathol 1991;14:143-167
8. Van Eyken P, Sciot R, Callea F, Van der Steen K, Moerman P, Desmet VJ. The development of the intrahepatic bile ducts in man: a keratin-immunohistochemical study. Hepatology 1988;8: 1586-1595
9. Desmet VJ. Destructive intrahepatic bile duct diseases. Recenti Prog Med 1990;81:392-398
10. Terada T, Nakanuma Y. Detection of apoptosis and expression of apoptosis-related proteins during human intrahepatic bile duct development. Am-J-Pathol 1995;146:67-74
11. Boyer JL. Bile duct epithelium: frontiers in transport physiology. Am-J-Physiol 1996;270:G1-G5
12. Boyer JL. Bile secretion-models, mechanisms, and malfunctions. A perspective on the development of modern cellular and molecular concepts of bile secretion and cholestasis. J-Gastroenterol 1996;31:475-481
13. Roberts SK, Ludwig J, Larusso NF. The pathobiology of biliary epithelia. Gastroenterology 1997;112:269-279
14. Alpini G, Roberts S, Kuntz SM, et al. Morphological, molecular, and functional heterogeneity of cholangiocytes from normal rat liver. Gastroenterology 1996;110(5):1636-1643
15. Marinelli RA, Larusso NF. Solute and water transport pathways in cholangiocytes. Semin-Liver-Dis 1996;16:221-229
16. Alpini G, Glaser S, Robertson W, et al. Large but not small intrahepatic bile ducts are involved in secretin-regulated ductal bile secretion. Am J Physiol 1997;272 G1064-G1074
17. Alvaro D, Cho WK, Mennone A, Boyer JL. Effect of secretion on intracellular pH regulation in isolated rat bile duct epithelial cells. J Clin Invest 1993;92:1314-1325
18. Fitz JG, Basavappa S, McGill J, et al. Regulation of membrane chloride currents in rat bile duct epithelial cells. J Clin Invest 1993;91:319-328
19. Cohn JA, Strong TV, Picciotto MR, Nairn AC, Collins FS, Fitz JG. Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells. Gastroenterology 1993;105:1857-1864
20. Roberts SK, Yano M, Ueno Y, et al. Cholangiocytes express the aquaporin CHIP and transport water via a channel-mediated mechanism. Proc Natl Acad Sci USA 1994;91:13009-13013
21. Alpini G, Ulrich C, Roberts S, et al. Molecular and functional heterogeneity of cholangiocytes from rat liver after bile duct ligation. Am J Physiol 1997;272:G289-G297
22. Kahn E. Paucity of interlobular bile ducts. Arteriohepatic dysplasia and nonsyndromic duct paucity. Perspect Pediatr Pathol 1991;14:168-215
23. Desmet VJ. Vanishing bile duct disorders. Prog Liver Dis 1992;10:89-121
24. Kocak N, Gurakan F, Yuce A, Caglar M, Kale G, Gogus S. Nonsyndromic paucity of mterlobular bile ducts: clinical and laboratory findings of 10 cases. J Pediatr Gastroenterol Nutr 1997;24:44-48
25. Kahn E, Markowitz J, Aiges H, Daum F. Human ontogeny of the bile duct to portal space ratio. Hepatology 1989;10:21-23
26. Furuya KN, Roberts EA, Canny GJ, Phillips MJ. Neonatal hepatitis syndrome with paucity of interlobular bile ducts in cystic fibrosis. J Pediatr Gastroenterol Nutr 1991;12;127-130
27. Dimmick JE. Intrahepatic bile duct paucity and cytomegalovirus infection. Pediatr Pathol 1993;13:847-852
28. Alonso EM, Snover DC, Montag A, Freese DK, Whitington PF. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:128-133
29. Bosman C, Renda F, Boldrini R, Bosman C. Intrahepatic cholestasis by paucity of interlobular bile ducts in infancy. Recenti Prog Med 1994;85:375-383
30. Hadchouel M. Paucity of interlobular bile ducts. Semin Diagn Pathol 1992;9:24-30
31. Kahn E, Daum F, Markowitz J, et al. Nonsyndromatic paucity of interlobular bile ducts: light and electron microscopic evaluation of sequential liver biopsies in early childhood. Hepatology 1986; 6:890-901
32. 31a. Alagille D, Odievre M. Liver and biliary tract disease in children. John Wiley & Sons, NY, 1979
33. Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 1987;110:195-200
34. Alagille D: Alagille syndrome today. Clin Invest Med 1996; 19:325-330
35. Krantz ID, Piccoli DA, Spinner NB. Alagille syndrome. J Med Genet 1997;34:152-157
36. Brunelle F, Estrada A, Dommergues JP, Bernard O, Chaumont P. Skeletal anomalies in Alagille's syndrome. Radiographic study in eighty cases. Ann Radiol 1986;29:687-690
37. Bucuvalas JC, Horn JA, Carlsson L, Balistreri WF, Chernausek SD. Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. J Clin Endocrinol Metab 1993; 76:1477-1482
38. Desmet VJ. Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology 1992;16:1069-1083
39. Deleuze JF, Dhorne-Pollet S, Pollet N, et al. [Alagille syndrome in 1995. Clinical and genetic data (see comments)]. Gastroenterol Clin Biol 1995;19:587-596
40. Elmslie FV, Vivian AJ, Gardiner H, et al. Alagille syndrome: family studies. J Med Genet 1995;32:264-268
41. Dhome-Pollet S, Deleuze JF, Hadchouel M, Bonaiti-Pellie C. Segregation analysis of Alagille syndrome. J Med Genet 1994, 31:453-457
42. Hol FA, Hamel BC, Geurds MP, et al. Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family Hum Genet 1995,95:687-690
43. Li PH, Shu SG, Yang CH, Lo FC, Wen MC, Chi CS. Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20). Am J Med Genet 1996;63:537-541
44. Krantz ID, Rand EB, Genin A, et al. Deletions of 20p12 in Alagille syndrome frequency and molecular characterization. Am J Med Genet 1997;70:80-86
45. Li L, Krantz ID, Deng Y. et al. Atagille syndrome is caused by mutations in human Jagged1, which encodes aligand for Notch1 [see comments]. Nat Genet 1997;16:243-251
46. Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome [see comments]. Nat Genet 1997;16:235-242
47. Artavanis-Tsakonas S. Alagille syndrome - a notch up for the Notch receptor [news; comment]. Nat Genet 1997;16:212-213
48. Hoffenberg EJ, Narkewicz MR, Sondheimer JM. Smith DJ, Silverman A, Sokol RJ. Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 1995;127:220-224
49. Rabinovitz M, Imperial JC, Schade RR, Van Thiel DH Hepatocellular carcinoma in Alagille's syndrome: a family study. J Pediatr Gastroenterol Nutr 1989;8:26-30
50. Grantham JJ. The etiology, pathogenesis, and treatment of autosomal dominant polycystic kidney disease: recent advances. Am J Kidney Dis 1996;28:788-803
51. Griffin MD, Torres VE, Kumar R. Cystic kidney diseases. Curr Opin Nephrol Hypertens 1997;6:276-283
52. Bacallao RL, Carone FA Recent advances in the understanding of polycystic kidney disease. Curr Opin Nephrol Hypertens 1997;6:377-383
53. Fick GM, Gabow PA. Natural history of autosomal dominant polycystic kidney disease. Annu Rev Med 1994;45:23-29
54. Martinez JR, Grantham JJ. Polycystic kidney disease: etiology, pathogenesis, and treatment. Dis Mon 1995;41:693-765
55. Daoust MC, Reynolds DM, Bichet DG, Somlo S. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 1995;25:733-736
56. Hughes J, Ward CJ, Peral B, et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995;10:151-160
57. Van Adelsberg JS, Frank D. The PKD1 gene produces a developmentally regulated protein in mesenchyme and vasculature [see comments]. Nat Med 1995;1:359-364
58. Geng L, Segal Y, Peissel B, et al. Identification and localization of polycystin, the PKD1 gene product. J Clin Invest 1996;98: 2674-2682
59. Ibraghimov-Beskrovnaya O, Dackowski WR, Foggensteiner L, et al. Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein. Proc Natl Acad Sci USA 1997;94:6397-6402
60. Mochizuki T, Wu G, Hayashi T, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996;272:1339-1342
61. Wilson PD, Falkenstein D. The pathology of human renal cystic disease. Curr Top Pathol 1995;88:1-50
62. Wilson PD. Epithelial cell polarity and disease. Am J Physiol 1997;272:F434-F442
63. Torra R, Badenas C, Darnell A, Bru C, Escorsell A, Estivill X. Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication. Kidney Int 1997:52:33-38
64. Uddin W, Ramage JK, Portmann B, et al. Hepatic venous outflow obstruction in patients with polycystic liver disease: pathogenesis and treatment Gut 1995;36:142-145
65. Que FN, Gross JB, Jr Torres VE, et al. Liver resection and cyst fenestration in the treatment of severe polycystic liver disease. Gastroenterology 1995;108.487-494
66. Pirson Y, Lannoy N, Peters D, et al. Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. Hepatology 1996;23: 249-252
67. Desmet VJ. What is congenital hepatic fibrosis? Histopathology 1992;20:465-477
68. Zerres K, Mucher G, Bachner L, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen [see comments]. Nat Genet 1994;7:429-432
69. Mucher G, Wirth B, Zerres K. Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12 [letter]. Am J Hum Genet 1994;55:1281-1284
70. Guay-Woodford LM, Muecher G, H SD, Avner ED, et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am J Hum Genet 1995;56:1101-1107
71. Lens XM, Onuchic LF, Wu G, et al. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics 1997;41:463-466
72. Zerres K, Rudnik-Schoneborn S, Deget F, et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft fur Padiatrische Nephrologie. Acta Paediatr 1996;85: 437-445
73. Roy S, Dillon MJ, Trompeter RS, Barratt TM. Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr Nephrol 1997;11:302-306
74. Deget F, Rudnik-Schoneborn S, Zerres K. Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships. Clin Genet 1995;47:248-253
75. Zerres K, Rudnik-Schoneborn S, Mucher G. Autosomal recessive polycystic kidney disease: clinical features and genetics. Adv Nephrol Necker Hosp 1996;25:147-157
76. D'Agata ID, Jonas MM, Perez-Atayde AR, Guay-Woodford LM. Combined cystic disease of the liver and kidney. Semin Liver Dis 1994;14:215-228
77. Waters K, Howman Giles R, Rossleigh M, Lam A, Uren R, Knight J. Intrahepatic bile duct dilatation and cholestasis in autosomal recessive polycystic kidney disease. Demonstration with hepatobiliary scintigraphy. Clin Nucl Med 1995;20:892-895