Congenital cholestatic syndromes: What happens when children grow up?

Canadian Journal of Gastroenterology

Volumn 21, Issue 11, 2007, Pages 743-751

  Ling, Simon C ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Alagille syndrome; Biliary atresia; Caroli syndrome; Children; Cholestasis; PFIC

Indexed keywords

ANTIBIOTIC AGENT; ANTIHISTAMINIC AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; COLESTYRAMINE; NOTCH RECEPTOR; ONDANSETRON; OPIATE ANTAGONIST; RIFAMPICIN; URSODEOXYCHOLIC ACID; VITAMIN;

ALAGILLE SYNDROME; AUTOSOMAL RECESSIVE DISORDER; BILE DUCT ATRESIA; BLEEDING; BRAIN DISEASE; CARDIOVASCULAR DISEASE; CAROLI DISEASE; CHILD GROWTH; CHOLANGIOGRAPHY; CHOLANGITIS; CHOLESTASIS; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CHOLESTATIC SYNDROME; CONGESTIVE HEART FAILURE; ENTERIC FEEDING; FOLLOW UP; GENE MUTATION; HUMAN; HYPOGLYCEMIA; HYPOTHYROIDISM; INTRAHEPATIC CHOLESTASIS; JAUNDICE; KIDNEY POLYCYSTIC DISEASE; LAPAROTOMY; LIVER TRANSPLANTATION; MORTALITY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL SUPPORT; PATHOGENESIS; PERSISTENT FAMILIAL INTRAHEPATIC CHOLESTASIS; PORTAL HYPERTENSION; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; PRURITUS; REVIEW; RISK FACTOR; XANTHOMA;

EID: 38649125253     PISSN: 08357900     EISSN: None     Source Type: Journal    
DOI: 10.1155/2007/581247     Document Type: Review

References (71)

1. Moyer V, Freese DK, Whitington PF, et al. Guideline for the evaluation of cholestatic jaundice in infants: Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2004;39:115-28. (Erratum in 2004;39:306).
2. Mack CL, Sokol RJ. Unraveling the pathogenesis and etiology of biliary atresia. Pediatr Res 2005;57:87R-94R.
3. Zhang DY, Sabla G, Shivakumar P, et al. Coordinate expression of regulatory genes differentiates embryonic and perinatal forms of biliary atresia. Hepatology 2004;39:954-62.
4. Davenport M. A challenge on the use of the words embryonic and perinatal in the context of biliary atresia. Hepatology 2005;41:403-4.
5. Muise AM, Turner D, Wine E, Kim P, Marcon M, Ling SC. Biliary atresia with choledochal cyst: Implications for classification. Clin Gastroenterol Hepatol 2006;4:1411-4.
6. Balistreri WF, Bezerra JA, Ryckman FC. Biliary atresia and other disorders of the extrahepatic bile ducts. In: Suchy FJ, Sokol RJ, Balistreri WF, eds. Liver Disease in Children. Philadelphia: Lippincott Williams & Wilkins, 2001:253-74.
7. Aspelund G, Ling SC, Ng V, Kim PC. A role for laparoscopic approach in treatment of biliary atresia and choledochal cysts. J Pediatr Surg 2007;42:869-72.
8. Schreiber RA, Barker C, Roberts EA, Martin SR, Smith L. Neonatal biliary atresia: The Canadian experience, 1985-2002. Hepatology 2005;42(Suppl 1):367A. (Abst)
9. Chardot C, Carton M, Spire-Bendelac N, Le Pommelet C, Golmard JL, Auvert B. Prognosis of biliary atresia in the era of liver transplantation: French national study from 1986 to 1996. Hepatology 1999;30:606-11.
10. Wildhaber BE, Coran AG, Drongowski RA, et al. The Kasai portoenterostomy for biliary atresia: A review of a 27-year experience with 81 patients. J Pediatr Surg 2003;38:1480-5.
11. Shneider BL, Brown MB, Haber B, et al. A multicenter study of the outcome of biliary atresia in the United States, 1997 to 2000. J Pediatr 2006;148:467-74.
12. Utterson EC, Shepherd RW, Sokol RJ, et al. Biliary atresia: Clinical profiles, risk factors, and outcomes of 755 patients listed for liver transplantation. J Pediatr 2005;147:180-5.
13. Shteyer E, Ramm GA, Xu C, White FV, Shepherd RW. Outcome after portoenterostomy in biliary atresia: Pivotal role of degree of liver fibrosis and intensity of stellate cell activation. J Pediatr Gastroenterol Nutr 2006;42:93-9.
14. Kobayashi A, Itabashi F, Ohbe Y. Long-term prognosis in biliary atresia after hepatic portoenterostomy: Analysis of 35 patients who survived beyond 5 years of age. J Pediatr 1984;105:243-6.
15. McKiernan PJ, Baker AJ, Kelly DA. The frequency and outcome of biliary atresia in the UK and Ireland. Lancet 2000;355:25-9.
16. Serinet MO, Broue F, Jacquemin E, et al. Management of patients with biliary atresia in France: results of a decentralized policy 1986-2002. Hepatology 2006;44:75-84.
17. Lykavieris P, Chardot C, Sokhn M, Gauthier F, Valayer J, Bernard O. Outcome in adulthood of biliary atresia: A study of 63 patients who survived for over 20 years with their native liver. Hepatology 2005;41:366-71.
18. Henkel AS, Buchman AL. Nutritional support in patients with chronic liver disease. Nat Clin Pract Gastroenterol Hepatol 2006;3:202-9.
19. Bu LN, Chen HL, Chang CJ, et al. Prophylactic oral antibiotics in prevention of recurrent cholangitis after the Kasai portoenterostomy. J Pediatr Surg 2003;38:590-3.
20. Wu ET, Chen HL, Ni YH, et al. Bacterial cholangitis in patients with biliary atresia: impact on short-term outcome. Pediatr Surg Int 2001;17:390-5.
21. Bu LN, Chen HL, Ni YH, et al. Multiple intrahepatic biliary cysts in children with biliary atresia. J Pediatr Surg 2002;37:1183-7.
22. Ling SC. Should children with esophageal varices receive beta-blockers for the primary prevention of variceal hemorrhage? Can J Gastroenterol 2005; 19:661-6.
23. de Franchis R. Evolving consensus in portal hypertension. Report of the Baveno IV consensus workshop on methodology of diagnosis and therapy in portal hypertension. J Hepatol 2005;43:167-76.
24. Alagille D, Habib EC, Thomassin N. L'atresie des voies biliaires extrahepatiques permeables chez l'enfant. J Par Pediatr 1969:301-18. (Abst)
25. 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.
26. Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis. Hepatology 1999;29:822-9.
27. Bhadri VA, Stormon MO, Arbuckle S, Lam AH, Gaskin KJ, Shun A. Hepatocellular carcinoma in children with Alagille syndrome. J Pediatr Gastroenterol Nutr 2005;41:676-8.
28. 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;127:220-4.
29. Berard E, Sarles J, Triolo V, et al. Renovascular hypertension and vascular anomalies in Alagille syndrome. Pediatr Nephrol 1998;12:121-4.
30. Schonck M, Hoorntje S, van Hooff J. Renal transplantation in Alagille syndrome. Nephrol Dial Transplant 1998;13:197-9.
31. Emerick KM, Krantz ID, Kamath BM, et al. Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr 2005;41:99-107.
32. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: A significant cause of morbidity and mortality. Circulation 2004;109:1354-8.
33. Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997;16:243-51.
34. Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997;16:235-42.
35. Harper JA, Yuan JS, Tan JB, Visan I, Guidos CJ. Notch signaling in development and disease. Clin Genet 2003;64:461-72.
36. Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1 mutations. J Med Genet 2003;40:891-5.
37. Duche M, Habes D, Lababidi A, Chardot C, Wenz J, Bernard O. Percutaneous endoscopic gastrostomy for continuous feeding in children with chronic cholestasis. J Pediatr Gastroenterol Nutr 1999;29:42-5.
38. Mattei P, von Allmen D, Piccoli D, Rand E. Relief of intractable pruritis in Alagille syndrome by partial external biliary diversion. J Pediatr Surg 2006;41:104-7.
39. Lykavieris P, Hadchouel M, Chardot C, Bernard O. Outcome of liver disease in children with Alagille syndrome: A study of 163 patients. Gut 2001;49:431-5.
40. Englert C, Grabhorn E, Burdelski M, Ganschow R. Liver transplantation in children with Alagille syndrome: Indications and outcome. Pediatr Transplant 2006;10:154-8.
41. Ozcay F, Varan B, Tokel K, Cetin I, Dalgic A, Haberal M. Severe peripheral pulmonary artery stenosis is not a contraindication to liver transplantation in Alagille syndrome. Pediatr Transplant 2006;10:108-11.
42. Kasahara M, Kiuchi T, Inomata Y, et al. Living-related liver transplantation for Alagille syndrome. Transplantation 2003;75:2147-50.
43. Kerkar N, Norton K, Suchy FJ. The hepatic fibrocystic diseases. Clin Liver Dis 2006;10:55-71,v-vi.
44. Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 2002;30:259-69.
45. Masyuk TV, Huang BQ, Ward CJ, et al. Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Gastroenterology 2003;125:1303-10.
46. Awasthi A, Das A, Srinivasan R, Joshi K. Morphological and immunohistochemical analysis of ductal plate malformation: Correlation with fetal liver. Histopathology 2004;45:260-7.
47. Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: The clinical experience in North America. Pediatrics 2003; 111: 1072-80.
48. Fonck C, Chauveau D, Gagnadoux MF, Pirson Y, Grunfeld JP. Autosomal recessive polycystic kidney disease in adulthood. Nephrol Dial Transplant 2001;16:1648-52.
49. Adeva M, El-Youssef M, Rossetti S, et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 2006;85:1-21.
50. Bockhorn M, Malago M, Lang H, et al. The role of surgery in Caroli's disease. J Am Coll Surg 2006;202:928-32.
51. Davis ID, Ho M, Hupertz V, Avner ED. Survival of childhood polycystic kidney disease following renal transplantation: The impact of advanced hepatobiliary disease. Pediatr Transplant 2003;7:364-9.
52. Khan K, Schwarzenberg SJ, Sharp HL, Matas AJ, Chavers BM. Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease. Am J Transplant 2002;2:360-5.
53. Clayton RJ, Iber FL, Ruebner BH, McKusick VA. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 1969; 117:112-24.
54. Knisely AS. Progressive familial intrahepatic cholestasis: A personal perspective. Pediatr Dev Pathol 2000;3:113-25.
55. Thompson R, Strautnieks S. BSEP: Function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis 2001;21:545-50.
56. Ujhazy P, Ortiz D, Misra S, et al. Familial intrahepatic cholestasis 1: Studies of localization and function. Hepatology 2001;34:768-75. (Erratum in 2002;35:246).
57. Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:134-41.
58. Knisely AS, Strautnieks SS, Meier Y, et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006;44:478-86.
59. Kurbegov AC, Setchell KD, Haas JE, et al. Biliary diversion for progressive familial intrahepatic cholestasis: Improved liver morphology and bile acid profile. Gastroenterology 2003;125:1227-34.
60. Ismail H, Kalicinski P, Markiewicz M, et al. Treatment of progressive familial intrahepatic cholestasis: Liver transplantation or partial external biliary diversion. Pediatr Transplant 1999;3:219-24.
61. Cutillo L, Najimi M, Smets F, et al. Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis. Pediatr Transplant 2006;10:570-4.
62. Bull LN, van Eijk MJ, Pawlikowska L, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-24.
63. van Mil SW, van der Woerd WL, van der Brugge G, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004;127:379-84.
64. Poupon R. Intrahepatic cholestasis of pregnancy: From bedside to bench to bedside. Liver Int 2005;25:467-8.
65. Reyes H, Gonzalez MC, Ribalta J, et al. Prevalence of intrahepatic cholestasis of pregnancy in Chile. Ann Intern Med 1978;88:487-93.
66. Pauli-Magnus C, Lang T, Meier Y, et al. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 ( ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 2004;14:91-102.
67. Jacquemin E, De Vree JM, Cresteil D, et al. The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-58.
68. Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001;120:1459-67.
69. Lucena. JF, Herrero JI, Quiroga J, et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003;124:1037-42.
70. Pauli-Magnus C, Kerb R, Fattinger K, et al. BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. Hepatology 2004;39:779-91.
71. Dahlan Y, Smith L, Simmonds D, et al. Pediatric-onset primary biliary cirrhosis. Gastroenterology 2003;125:1476-9.