Year 2019 / Volume 111 / Number 4
Case Report
Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults

323-326

DOI: 10.17235/reed.2019.5679/2018

Wei Zhang, Xinyan Zhao, Jian Huang, Xiaojuan Ou, Jidong Jia,

Abstract
Alagille syndrome (ALGS) is an autosomal-dominant multisystem disorder caused by mutations in Jagged 1 (JAG1) or NOTCH2. The penetrance is low but highly variable. It is almost exclusively diagnosed in children with cholestasis and, more rarely, in their adult relatives. Here, we report the case of a patient diagnosed with ALGS in adulthood. The patient was a 28-year-old male who presented with characteristic facial features, an eye abnormality, chronic cholestasis with bile duct paucity on liver biopsy, atrial defects and stenosis of the left internal carotid artery. A novel frameshift mutation, c.2087_2088insAAAAATGG (p. W697Kfs*49), in JAG1 was identified. To our knowledge, this is the first case of ALGS diagnosed in adulthood in China. ALGS should be considered as a differential diagnosis for intrahepatic cholestasis in adult patients with a wide variety of clinical manifestations, including cardiac disease, skeletal abnormalities, ocular abnormalities and characteristic facial features.
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References
1.Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2012;20(3): 251-257.
2.Piccoli DA, Spinner NB. Alagille syndrome and the Jagged1 gene. Semin in liver dis 2001;21(4):525-534.
3.Li L, Dong J, Wang X, et al. JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. PLOS ONE 2015;10(6): e130355.
4.Jacquet A, Guiochon-Mantel A, Noël L, et al. Alagille Syndrome in Adult Patients: It Is Never Too Late. Am J Kidney Dis 2007;49(5):705-709.
5.Murata K, Shiraki K, Kamei S, et al. Laparoscopic findings in an adult case of Alagille syndrome. Endoscopy 2000; 32(7): 536.
6.Tsai S, Gurakar A, Anders R, et al. Management of Large Hepatocellular Carcinoma in Adult Patients with Alagille Syndrome: A Case Report and Review of Literature. Digest Dis Sci 2010;55(11): 3052-3058.
7.Bail B L, Bioulac-Sage P, Arnoux R, et al. Late recurrence of a hepatocellular carcinoma in a patient with incomplete alagille syndrome. Gastroenterology 1990; 99(5): 1514-1516.
8.Yucel H, Hoorntje SJ, Bravenboer B. Renal abnormalities in a family with Alagille syndrome.Neth J Med 2010;68(1):38-39.
9.Hayashi N, Okuyama H, Matsui Y, et al. Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation. Clin Kidney J 2013; 6(3): 295-299.
10.Kim J, Yang B, Paik N, et al. A case of Alagille syndrome presenting with chronic cholestasis in an adult. Clinical and Molecular Hepatology 2017; 23(3): 260-264.
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Zhang W, Zhao X, Huang J, Ou X, Jia J. Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults. 5679/2018


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Publication history

Received: 25/04/2018

Accepted: 13/11/2018

Online First: 11/02/2019

Published: 04/04/2019

Article revision time: 200 days

Article Online First time: 292 days

Article editing time: 344 days


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