Biliary tract malformations

American Journal of Medical Genetics

Volumn 122 A, Issue 4, 2003, Pages 343-350

  Knisely, Alexander S ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Bile acid; Cholangiopathy; Ductal plate malformation; Ontogeny

Indexed keywords

BILE DUCT ATRESIA; BILE DUCT DISEASE; BILIARY TRACT MALFORMATION; CONFERENCE PAPER; DISEASE CLASSIFICATION; EMBRYO DEVELOPMENT; GENETIC ASSOCIATION; GENOTYPE; HUMAN; PHENOTYPE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; VATER PAPILLA;

EID: 0141959119     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20479     Document Type: Conference Paper

References (75)

1. Akimoto N, Satow Y, Lee JY, Okamoto N. 1985. Short rib-polydactyly syndrome (Majewski type): Report of a case with autopsy findings. Hiroshima J Med Sci 34:189-199.
2. Alpini G, Ueno Y, Glaser SS, Marzioni M, Phinizy JL, Francis H, LeSage G. 2001. Bile acid feeding increased proliferative activity and apical bile acid transporter expression in both small and large rat cholangiocytes. Hepatology 34:868-876.
3. Amedée-Manesme O, Bernard O, Brunelle F, Hadchouel M, Polonovski C, Baudon JJ, Beguet P, Alagille D. 1987. Sclerosing cholangitis with neonatal onset. J Pediatr 111:225-229.
4. Azarow KS, Phillips MJ, Sandler AD, Hagerstrand I, Superina RA. 1997. Biliary atresia: Should all patients undergo a portoenterostomy? J Pediatr Surg 32:168-172; discussion 172-174.
5. Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, Jacquemin E, Sefiani A, De Prost Y, Courtois G, Munnich A, Lyonnet S, Vabres P. 2002. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. J Invest Dermatol 119:70-76.
6. Baker AJ, Portmann B, Westaby D, Wilkinson M, Karani J, Mowat AP. 1993. Neonatal sclerosing cholangitis in two siblings: A category of progressive intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 17:317-322.
7. Balistreri WF, Grand R, Hoofnagle JH, Suchy FJ, Ryckman FC, Perlmutter DH, Sokol RJ. 1996. Biliary atresia: Current concepts and research directions: Summary of a symposium. Hepatology 23:1682-1692.
8. Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B. 2000. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 26:365-369.
9. Baratta B, Rizzoli R, Galliani I, Vitale M, Rizzi E, Matteucci A, Galanzi A, Zamai L, Mazzotti G. 1996. Early events of liver regeneration in rats: A multiparametric analysis. Histochem Cell Biol 105:61-69.
10. Blankenberg TA, Ruebner BH, Ellis WG, Bernstein J, Dimmick JE. 1987. Pathology of renal and hepatic anomalies in Meckel syndrome. Am J Med Genet Suppl 3:395-410.
11. Boichis H, Passwell J, David R, Miller H. 1973. Congenital hepatic fibrosis and nephronophthisis: A family study. Q J Med 42:221-233.
12. Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA. 2000. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet 67:222-228.
13. Böhm N, Fukuda M, Staudt R, Helwig H. 1978. Chondroectodermal dysplasia (Ellis-van Creveld syndrome) with dysplasia of renal medulla and bile ducts. Histopathology 2:267-281.
14. Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. 2002. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet 71:1443-1449.
15. Chatelain D, Chailley-Heu B, Terris B, Molas G, Le Cae A, Vilgrain V, Belghiti J, Degott C, Flejou JF. 2000. The ciliated hepatic foregut cyst, an unusual bronchiolar foregut malformation: A histological, histochemical, and immunohistochemical study of 7 cases. Hum Pathol 31:241-246.
16. Cideciyan D, Rodriguez MM, Haun RL, Abdenour GE, Bruce JH. 1993. New findings in short rib syndrome. Am J Med Genet 46:255-259.
17. Clotman F, Lannoy VJ, Reber M, Cereghini S, Cassiman D, Jacquemin P, Roskams T, Rousseau GG, Lemaigre FP. 2002. The onecut transcription factor HNF6 is required for normal development of the biliary tract. Development 129:1819-1828.
18. Coffinier C, Thépot D, Babinet C, Yaniv M, Barra J. 1999. Essential role for the homeoprotein vHNF1/HNF1β in visceral endoderm differentiation. Development 126:4785-4794.
19. Coffinier C, Gresh L, Fiette L, Tronche F, Schutz G, Babinet C, Pontoglio M, Yaniv M, Barra J. 2002. Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1β. Development 129:1829-1838.
20. Crittenden SL, McKinley MJ. 1985. Choledochal cyst-clinical features and classification. Am J Gastroenterol 80:643-647.
21. Davenport M, Savage M, Mowat AP, Howard ER. 1993. Biliary atresia splenic malformation syndrome: An etiologic and prognostic subgroup. Surgery 113:662-668.
22. Desmet VJ. 1992a. Congenital diseases of intrahepatic bile ducts: Variations on the theme ductal plate malformation. Hepatology 16:1069-1083.
23. Desmet VJ. 1992b. What is congenital hepatic fibrosis? Histopathology 20:465-477.
24. Desmet VJ. 1998. Ludwig symposium on biliary disorders-Part I: Pathogenesis of ductal plate abnormalities. Mayo Clin Proc 73:80-89.
25. Deutsch GH, Sokol RJ, Stathos TH, Knisely AS. 2001. Proliferation to paucity: Evolution of bile duct abnormalities in a case of Alagille syndrome. Pediatr Dev Pathol 4:559-563.
26. Diehl AM. 2002. Liver regeneration. Front Biosci 7:e301-e314.
27. DiFiore JW, Alexander F. 2002. Congenital bronchobiliary fistula in association with right-sided congenital diaphragmatic hernia. J Pediatr Surg 37:1208-1209.
28. Donaldson JC, Dise RS, Ritchie MD, Hanks SK. 2002. Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. J Biol Chem 277:29028-29035.
29. Drenth JPH, te Morsche RHM, Smink R, Bonifacino JS, Jansen JBMJ. 2003. Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Nat Genet 33:345-347.
30. Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A. 2000. North American Indian cirrhosis in children: A review of 30 cases. J Pediatr Gastroenterol Nutr 31:395-404.
31. Elejalde BR, Giraldo C, Jimenez R, Gilbert EF. 1977. Acrocephalopolydactylous dysplasia. Birth Defects Orig Art Ser 13(3B):53-67.
32. Freeze HH. 1999. New diagnosis and treatment of congenital hepatic fibrosis. J Pediatr Gastroenterol Nutr 29:104-106.
33. Gentile M, Di Carlo A, Susca F, Gambotto A, Caruso ML, Panella C, Vajro P, Guanti G. 1996. COACH syndrome: Report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. Am J Med Genet 64:514-520.
34. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. 2002. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39:882-892.
35. Ho NC, Francomano CA, van Allen M. 2000. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Am J Med Genet 90:310-314.
36. Jacquemin E, de Vree JLM, Cresteil D, Sokal EM, Sturm E, Dumont M, Scheffer GL, Paul M, Burdelski M, Bosma PJ, Bernard O, Hadchouel M, Oude Elferink RP. 2001. The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 120:1448-1458.
37. Jacquemin E, Cresteil D, Raynaud N, Hadchouel M. 2002. CFC1 gene mutation and biliary atresia with polysplenia syndrome [Letter]. J Pediatr Gastroenterol Nutr 34:326-327.
38. Kayser K. 1987. Height and weight in human beings: Autopsy report. Munich: Verlag für Angewandte Wissenschaften.
39. Labrune P, Fabre M, Trioche P, Estournet-Mathiaud B, Grangeponte MC, Rambaud C, Maurage C, Bernard O. 1999. Jeune syndrome and liver disease: Report of three cases treated with ursodeoxycholic acid. Am J Med Genet 87:324-328.
40. Lamri Y, Erlinger S, Dumont M, Roda A, Feldmann G. 1992. Immunoper-oxidase localization of ursodeoxycholic acid in rat biliary epithelial cells: Evidence for a cholehepatic circulation. Liver 12:351-354.
41. Landing BH, Wells TR, Claireaux AE. 1980. Morphometric analysis of liver lesions in cystic diseases of childhood. Hum Pathol 11:549-560.
42. Lewis SM, Roberts EA, Marcon MA, Harvey E, Phillips MJ, Chuang SA, Buncic JR, Clarke JT. 1994. Joubert syndrome with congenital hepatic fibrosis: An entity in the spectrum of oculo-encephalo-hepato-renal disorders. Am J Med Genet 52:419-426.
43. Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S. 2003. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am J Hum Genet 72:691-703.
44. Lonergan GJ, Rice RR, Suarez ES. 2000. Autosomal recessive polycystic kidney disease: Radiologic-pathologic correlation. Radiographics 20:837-855.
45. Matsumoto Y, Fujii H, Itakura J, Matsuda M, Nobukawa B, Suda K. 2002. Recent advances in pancreaticobiliary maljunction. J Hepatobiliary Pancreat Surg 9:45-54.
46. Mazziotti MV, Willis LK, Heuckeroth RO, LaRegina MC, Swanson PE, Overbeek PA, Perlmutter DH. 1999. Anomalous development of the hepatobiliary system in the Inv mouse. Hepatology 30:372-378.
47. McKiernan PJ, Baker AJ, Kelly DA. 2000. The frequency and outcome of biliary atresia in the UK and Ireland. Lancet 355:25-29.
48. Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. 2002. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet 32:300-305.
49. Nakamura F, Sasaki H, Kajihara H, Yamanoue M. 1990. Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis. J Gastroenterol Hepatol 5:206-210.
50. Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J. 2003. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 33:129-137.
51. Pagon RA, Haas JE, Bunt AH, Rodaway KA. 1982. Hepatic involvement in the Bardet-Biedl syndrome. Am J Med Genet 13:373-381.
52. Piccoli DA, Spinner NB. 2001. Alagille syndrome and the Jagged1 gene. Semin Liver Dis 21:525-534.
53. Puente SG, Bannura GC. 1983. Radiological anatomy of the biliary tract: Variations and congenital abnormalities. World J Surg 7:271-276.
54. Qian Q, Li A, King BF, Kamath PS, Lager DJ, Huston J III, Shub C, Davila S, Somlo S, Torres VE. 2003. Clinical profile of autosomal dominant polycystic liver disease. Hepatology 37:164-171.
55. Ramos A, Torres VE, Holley KE, Offord KP, Rakela J, Ludwig J. 1990. The liver in autosomal dominant polycystic kidney disease: Implications for pathogenesis. Arch Pathol Lab Med 114:180-184.
56. Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. 2000. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 24:283-286.
57. Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. 2003. Mutations in two non-homologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 72:728-732.
58. Saldino RM, Noonan CD. 1972. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Roentgenol Radium Ther Nucl Med 114:257-263.
59. Sanzen T, Harada K, Yasoshima M, Kawamura Y, Ishibashi M, Nakanuma Y. 2001. Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am J Pathol 158:1605-1612.
60. Schon P, Tsuchiya K, Lenoir D, Mochizuki T, Guichard C, Takai S, Maiti AK, Nihei H, Weil J, Yokoyama T, Bouvagnet P. 2002. Identification, genomic organization, chromosomal mapping, and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia. Hum Genet 110:157-165.
61. Shiojiri N. 1997. Development and differentiation of bile ducts in the mammalian liver. Microsc Res Tech 39:328-335.
62. Shiojiri N, Katayama H. 1987. Secondary joining of the bile ducts during the hepatogenesis of the mouse embryo. Anat Embryol 177:153-163.
63. Smith BM, Laberge JM, Schreiber R, Weber AM, Blanchard H. 1991. Familial biliary atresia in three siblings including twins. J Pediatr Surg 26:1331-1333.
64. Spagnoli FM, Amicone L, Tripodi M, Weiss MC. 1998. Identification of a bipotential precursor cell in hepatic cell lines derived from transgenic mice expressing cyto-Met in the liver. J Cell Biol 143:1101-1112.
65. Suchy FJ, Bucuvalas JC, Novak DA. 1987. Determinants of bile formation during development: Ontogeny of hepatic bile acid metabolism and transport. Semin Liver Dis 7:77-84.
66. Todani T, Watanabe Y, Narusue M, Tabuchi K, Okajima K. 1977. Congenital bile duct cysts: Classification, operative procedures, and review of thirty-seven cases including cancer arising from choledochal cyst. Am J Surg 134:263-269.
67. Todani T, Watanabe Y, Toki A, Ogura K, Wang ZQ. 1998. Co-existing biliary anomalies and anatomical variants in choledochal cyst. Br J Surg 85:760-763.
68. Torra R, Alos L, Ramos J, Estivill X. 1996. Renal-hepatic-pancreatic dysplasia: An autosomal recessive malformation. J Med Genet 33:409-412.
69. Tyler KL, Sokol RJ, Oberhaus SM, Le M, Karrer FM, Narkewicz MR, Tyson RW, Murphy JR, Low R, Brown WR. 1998. Detection of reovirus RNA in hepatobiliary tissues from patients with extrahepatic biliary atresia and choledochal cysts. Hepatology 27:1475-1482.
70. van Eyken P, Sciot R, Callea V, van der Steen K, Moerman P, Desmet VJ. 1988. The development of the intrahepatic bile ducts in man: A keratin-immunohistochemical study. Hepatology 8:1586-1595.
71. von Meyenburg H. 1918. Über die Zystenleber. Beitr Pathol Anat Allg Pathol 64:477-532 (Tafeln X, XI).
72. Wagenaar GTM, Chamuleau RAFM, Pool CW, de Haan JG, Maas MAW, Korfage HAM, Lamers WH. 1993. Distribution and activity of glutamine synthase and carbamoylphosphate synthase upon enlargement of the liver lobule by repeated partial hepatectomies. J Hepatol 17:397-407.
73. Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC. 2002. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259-269.
74. Witzleben CL. 1982. Bile duct paucity (intrahepatic atresia). Perspect Pediatr Pathol 7:185-201.
75. Zaret KS. 2000. Liver specification and early morphogenesis. Mech Dev 92:83-88.