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간관 폐쇄증이 동반된 알라질 증후군 (Alagille Syndrome) 1예

A Case of Alagille Syndrome with Atresia of the Hepatic Duct

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초록

A two-month-old baby had acholic stool, neonatal hyperbilirubinemia and congenital heart disease. Atresia of the hepatic duct was confirmed by open cholangiography, which showed a non-opacified intrahepatic bile duct. Liver biopsy and the Kasai operation were performed. Because the liver biopsy pathology revealed a paucity of intrahepatic bile ducts, the patient was diagnosed with the Alagille syndrome. We report the case of an infant diagnosed with the Alagille syndrome with atresia of the hepatic duct.

Abstract

A two-month-old baby had acholic stool, neonatal hyperbilirubinemia and congenital heart disease. Atresia of the hepatic duct was confirmed by open cholangiography, which showed a non-opacified intrahepatic bile duct. Liver biopsy and the Kasai operation were performed. Because the liver biopsy pathology revealed a paucity of intrahepatic bile ducts, the patient was diagnosed with the Alagille syndrome. We report the case of an infant diagnosed with the Alagille syndrome with atresia of the hepatic duct.

참고문헌 (11)

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  2. Davenport M, "Biliary atresia", Semin Pediatr Surg, 14, pp.42~48 (2005)
  3. de Carvalho E, "Extrahepatic biliary atresia: current concepts and future directions", J Pediatr, 83, pp.105~120 (2007)
  4. Sookpotarom P, "Non-correctable biliary atresia with large extrahepatic cyst: a report of two cases", Eur J Pediatr Surg, 17, pp.295~297 (2007)
  5. Piccoli DA, "Alagille syndrome and the Jagged1 gene", Semin Liver Dis, 21, pp.525~534 (2001)
  6. Libbrecht L, "Peripheral bile duct paucity and cholestasis in the liver of a patient with Alagille Syndrome: futher evidence supporting a lack of postnatal bile duct branching and elongation", Am J Surg Pathol, 29, pp.820~826 (2005)
  7. Alagille D, "Syndromic paucity of interlobular bile duct (Alagilles syndrome or arteriohepatic dysplasia): review of 80 cases", J Pediatr, 110, pp.195~200 (1987)
  8. Kohsaka T, "The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia", Hepatology, 36, pp.904~912 (2002)
  9. Quiros-Tejeira RE, "Does liver transplantation affect growth pattern in Alagille Syndrome?", Liver Transpl, 6, pp.582~587 (2000)
  10. Nio M, "Japanese Biliary Atresia Registry. Five- and 10-year survival rates after surgery for biliary atresia: a report from the Japanese Biliary Atresia Registry", J Pediatr Surg, 38, pp.997~1000 (2003)
  11. Lykavieris P, "Outcome of liver disease in children with Alagille syndrome: a study of 163 patients", Gut, 49, pp.431~435 (2001)

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