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KMID : 1040620170230030260
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Clinical and Molecular Hepatology
2017 Volume.23 No. 3 p.260 ~ p.264
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A case of Alagille syndrome presenting with chronic cholestasis in an adult
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Kim Ji-Hye
Paik Nam-Young
Choe Yon-Ho
Paik Yong-Han
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Abstract
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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.
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KEYWORD
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Alagille syndrome, Cholestasis, Bile-duct paucity, JAG1, Adult
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