Síndrome de Allagile. Presentación de un caso
Palabras clave:
Síndrome de Allagile, pediatría, criterios diagnósticos.Resumen
El Síndrome de Allagile, conocido también como síndrome de Alagille-Watson y displasia arterio hepática se caracteriza por una colestasis crónica producida por una hipoplasia de las vías biliares intrahepáticas. Se asocia a malformaciones congénitas cardiacas, renales y esqueléticas en pacientes con un fenotipo peculiar. Estas características constituyen los cinco criterios clásicos de diagnóstico. La biopsia hepática ya no es imprescindible para el diagnóstico, siempre y cuando exista ictericia colestasica. El tratamiento es sintomático. El trasplante hepático debe plantearse solo en caso de falla hepática porque la sobrevida no es buena. Se presenta el caso de una niña con diagnóstico de Síndrome de Allagile, que presentó cuatro de los cinco criterios clásicos.
Métricas
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Citas
1. Alagille D, Odievre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr. 1975;86:63-71. [ Links ]
2. Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, et-al. Facial features in Alagille syndrome: specific or Alagille syndrome?. Am J Med Genet. 2002;112(2):163-70. [ Links ]
3. Woolf GM, Vierling JM. Disappearing intrahepatic bile duct: the sindrome and their mechanic. Semin Liver Dis. 1993;13:261-75. [ Links ]
4. Kaye AJ, Rand EB, Munoz PS, Spinner NB, Flake AW, Kamath BM. Effect of Kasai procedure on hepatic outcome in Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010;51:319-21. [ Links ]
5. Arnon R, Annunziato R, Miloh T, Suchy F, Sakworawich A, Sogawa H, et-al. Orthotopic liver transplantation for children with Alagille syndrome. Pediatr Transplantat. 2010;14(5):622-28. [ Links ]
6. Roberts EA. The jaundiced baby. En: Kelly DA, editor. Diseases of the liver and biliary system in children. Oxford: Blacwell-Science; 1999. p. 11-45. [ Links ]
7. Trauner M, Meier PJ, Boyer JL. Molecular pathogenesis of cholestasis. N Engl J Med. 1998;339:1217-27. [ Links ]
8. Wang JS, Wang XH, Zhu QR, Wang ZL, Hu XQ, Zheng S. Clinical and pathological characteristics of Alagille syndrome in Chinese children. World J Pediatr. 2008;4(4):283-88. [ Links ]
9. Méndez MV, Burastero M, Cuadro MN, Casamayou L, Gutiérrez C, Montano A, et-al. Colestasis neonatal: evolución de los pacientes diagnosticados entre 1983 y 2000 en dos servicios gastroenterológicos de referencia de Montevideo. Arch Pediatr Urug. 2005;76(3):210-21. [ Links ]
10. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et-al. Alagille syndrome is caused by mutations in human JAGGED1, which encodes a ligand for NOTCH1. Nat Genet. 1997;16(3):243-51. [ Links ]
11. Crosnier C, Driancourt C, Reynaud N, Dhorne-Pollet S, Pollet N, Bernard O, et-al. Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology. 1999;116(5):1141-48. [ Links ]
12. Hingorani M, Nischal KK, Davies A, Bentley C, Vivian A, Baker AJ, et-al. Ocular abnormalities in Alagille syndrome. Ophthalmology. 1999;106:330-37. [ Links ]
13. Sanderson E, Newman V, Haigh SF, Baker A, Sidhu PS. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. Pediatr Radiol. 2002;32(2):114-19. [ Links ]
14. Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, et-al. Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010;51(1):66-70. [ Links ]
15. Ciocca M, Alvarez F. Síndrome de Alagille. Arch Argent Pediatr. 2012;110(6):509-15. [ Links ]
16. 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(3):822-29. [ Links ]
17. Tumpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20(3):251-57. [ Links ]
18. McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, et-al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation. 2002;106(20):2567-74. [ Links ]
19. Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, et-al. Familial Tetralogy of Fallot caused by mutation in the JAGGED 1 gene. Hum Mol Genet. 2001;10(2):163-69. [ Links ]
20. Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M. Alagille syndrome: the widening spectrum of arterio hepatic dysplasia. Clin Liver Dis. 2000;4(4):765-78. [ Links ]
21. Olsen IE, Ittenbach RF, Rovner AJ, Leonard MB, Mulberg AE, Stallings VA, et-al. Deficits in size-adjusted bone mass in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005;40(1):76-82. [ Links ]
22. Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, et-al. Intracranial vascular abnormalities in patients with Ala gille syndrome. J Pediatr Gastroenterol Nutr. 2005;41(1):99-107. [ Links ]
23. Lykavieris P, Crosnier C, Trichet C, Meunier-Rotival M, Hadchouel M. Bleeding tendency in children with Alagille syndrome. Pediatrics. 2003;111(1):167-70. [ Links ]
24. Shrivastava R, Williams A, Mikhail A, Roberts D, Richards M, Aithal V. An unusual cause of hypertension and renal failure: a case series of a family with Alagille syndrome. Nephron Dial Transplant. 2010;25(5):1501-06. [ Links ]
25. Davis J, Griffiths R, Larkin K, Rozansky D, Troxell M. Glomerular basement membrane lipidosis in Alagille syndrome. Pediatr Nephrol. 2010;25(6):1181-84. [ Links ]
26. Mattei P, von Allmen D, Piccoli D, Rand E. Relief of in tractable pruritus in Alagille syndrome by partial external biliary diversion. J Pediatr Surg. 2006;41:104-07. [ Links ]
27. Kamath BM, Loomes KM, Piccoli DA. Medical manage ment of Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010;50:580-86. [ Links ]
28. Kamath BM, Schwarz KB, Hadzic N. Alagille syndrome and liver transplantation. J Pediatr Gastroenterol Nutr. 2010;50:11-15. [ Links ]
2. Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, et-al. Facial features in Alagille syndrome: specific or Alagille syndrome?. Am J Med Genet. 2002;112(2):163-70. [ Links ]
3. Woolf GM, Vierling JM. Disappearing intrahepatic bile duct: the sindrome and their mechanic. Semin Liver Dis. 1993;13:261-75. [ Links ]
4. Kaye AJ, Rand EB, Munoz PS, Spinner NB, Flake AW, Kamath BM. Effect of Kasai procedure on hepatic outcome in Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010;51:319-21. [ Links ]
5. Arnon R, Annunziato R, Miloh T, Suchy F, Sakworawich A, Sogawa H, et-al. Orthotopic liver transplantation for children with Alagille syndrome. Pediatr Transplantat. 2010;14(5):622-28. [ Links ]
6. Roberts EA. The jaundiced baby. En: Kelly DA, editor. Diseases of the liver and biliary system in children. Oxford: Blacwell-Science; 1999. p. 11-45. [ Links ]
7. Trauner M, Meier PJ, Boyer JL. Molecular pathogenesis of cholestasis. N Engl J Med. 1998;339:1217-27. [ Links ]
8. Wang JS, Wang XH, Zhu QR, Wang ZL, Hu XQ, Zheng S. Clinical and pathological characteristics of Alagille syndrome in Chinese children. World J Pediatr. 2008;4(4):283-88. [ Links ]
9. Méndez MV, Burastero M, Cuadro MN, Casamayou L, Gutiérrez C, Montano A, et-al. Colestasis neonatal: evolución de los pacientes diagnosticados entre 1983 y 2000 en dos servicios gastroenterológicos de referencia de Montevideo. Arch Pediatr Urug. 2005;76(3):210-21. [ Links ]
10. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et-al. Alagille syndrome is caused by mutations in human JAGGED1, which encodes a ligand for NOTCH1. Nat Genet. 1997;16(3):243-51. [ Links ]
11. Crosnier C, Driancourt C, Reynaud N, Dhorne-Pollet S, Pollet N, Bernard O, et-al. Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology. 1999;116(5):1141-48. [ Links ]
12. Hingorani M, Nischal KK, Davies A, Bentley C, Vivian A, Baker AJ, et-al. Ocular abnormalities in Alagille syndrome. Ophthalmology. 1999;106:330-37. [ Links ]
13. Sanderson E, Newman V, Haigh SF, Baker A, Sidhu PS. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. Pediatr Radiol. 2002;32(2):114-19. [ Links ]
14. Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, et-al. Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010;51(1):66-70. [ Links ]
15. Ciocca M, Alvarez F. Síndrome de Alagille. Arch Argent Pediatr. 2012;110(6):509-15. [ Links ]
16. 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(3):822-29. [ Links ]
17. Tumpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20(3):251-57. [ Links ]
18. McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, et-al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation. 2002;106(20):2567-74. [ Links ]
19. Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, et-al. Familial Tetralogy of Fallot caused by mutation in the JAGGED 1 gene. Hum Mol Genet. 2001;10(2):163-69. [ Links ]
20. Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M. Alagille syndrome: the widening spectrum of arterio hepatic dysplasia. Clin Liver Dis. 2000;4(4):765-78. [ Links ]
21. Olsen IE, Ittenbach RF, Rovner AJ, Leonard MB, Mulberg AE, Stallings VA, et-al. Deficits in size-adjusted bone mass in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005;40(1):76-82. [ Links ]
22. Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, et-al. Intracranial vascular abnormalities in patients with Ala gille syndrome. J Pediatr Gastroenterol Nutr. 2005;41(1):99-107. [ Links ]
23. Lykavieris P, Crosnier C, Trichet C, Meunier-Rotival M, Hadchouel M. Bleeding tendency in children with Alagille syndrome. Pediatrics. 2003;111(1):167-70. [ Links ]
24. Shrivastava R, Williams A, Mikhail A, Roberts D, Richards M, Aithal V. An unusual cause of hypertension and renal failure: a case series of a family with Alagille syndrome. Nephron Dial Transplant. 2010;25(5):1501-06. [ Links ]
25. Davis J, Griffiths R, Larkin K, Rozansky D, Troxell M. Glomerular basement membrane lipidosis in Alagille syndrome. Pediatr Nephrol. 2010;25(6):1181-84. [ Links ]
26. Mattei P, von Allmen D, Piccoli D, Rand E. Relief of in tractable pruritus in Alagille syndrome by partial external biliary diversion. J Pediatr Surg. 2006;41:104-07. [ Links ]
27. Kamath BM, Loomes KM, Piccoli DA. Medical manage ment of Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010;50:580-86. [ Links ]
28. Kamath BM, Schwarz KB, Hadzic N. Alagille syndrome and liver transplantation. J Pediatr Gastroenterol Nutr. 2010;50:11-15. [ Links ]
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Publicado
2017-10-22
Cómo citar
Ortiz-C, L. M., & Samudio-D, G. C. (2017). Síndrome de Allagile. Presentación de un caso. Pediatría (Asunción), 41(1), 51-56. Recuperado a partir de https://revistaspp.org/index.php/pediatria/article/view/143
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