A case of Alagille syndrome presenting with chronic cholestasis in an adult
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup.
Abstract
Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup.
참고문헌 (19)
- Alagille D, "Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases", J Pediatr, 110, pp.195~200 (1987)
- Deprettere A, "Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood", J Pediatr Gastroenterol Nutr, 6, pp.865~871 (1987)
- Emerick KM, "Features of Alagille syndrome in 92 patients: frequency and relation to prognosis", Hepatology, 29, pp.822~829 (1999)
- Li L, "Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1", Nat Genet, 16, pp.243~251 (1997)
- Vajro P, "Alagille syndrome: an overview", Clin Res Hepatol Gastroenterol, 36, pp.275~257 (2012)
- Oda T, "Mutations in the human Jagged1 gene are responsible for Alagille syndrome", Nat Genet, 16, pp.235~242 (1997)
- McDaniell R, "NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway", Am J Hum Genet, 79, pp.169~173 (2006)
- Cho JM, "Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome", Pediatr Int, 57, pp.552~527 (2015)
- Warthen DM, "Jagged1 (JAG1) mutations in Alagille syndrome:increasing the mutation detection rate", Hum Mutat, 27, pp.436~443 (2006)
- Spinner NB, "Jagged1 mutations in alagille syndrome", Hum Mutat, 17, pp.18~33 (2001)
- Lin HC, "Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features", Am J Med Genet A, 158A, pp.1005~1013 (2012)
- Turnpenny PD, "Alagille syndrome: pathogenesis, diagnosis and management", Eur J Hum Genet, 20, pp.251~257 (2012)
- Hoffenberg EJ, "Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy", J Pediatr, 127, pp.220~224 (1995)
- Lykavieris P, "Outcome of liver disease in children with Alagille syndrome: a study of 163 patients", Gut, 49, pp.431~435 (2001)
- Invernizzi P, "Comparison of the clinical features and clinical course of antimitochondrial antibody-positive and -negative primary biliary cirrhosis", Hepatology, 25, pp.1090~1095 (1997)
- Ludwig J, "Idiopathic adulthood ductopenia: an update", Mayo Clin Proc, 73, pp.285~291 (1998)
- Krantz ID, "Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families", Am J Hum Genet, 62, pp.1361~1369 (1998)
- Crosnier C, "Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome", Gastroenterology, 116, pp.1141~1148 (1999)
- Quiros-Tejeira RE, "Variable morbidity in alagille syndrome: a review of 43 cases", J Pediatr Gastroenterol Nutr, 29, pp.431~437 (1999)