A case of Alagille syndrome presenting with chronic cholestasis in an adult.
- Author:
Jihye KIM
1
;
Bumhee YANG
;
Namyoung PAIK
;
Yon Ho CHOE
;
Yong Han PAIK
Author Information
- Publication Type:Case Report
- Keywords: Alagille syndrome; Cholestasis; Bile-duct paucity; JAG1; Adult
- MeSH: Adult*; Alagille Syndrome*; Alkaline Phosphatase; Bile Ducts, Intrahepatic; Cholestasis*; Facies; gamma-Glutamyltransferase; Heart; Heart Defects, Congenital; Humans; Liver; Male; Penetrance; Pulmonary Artery; Skeleton
- From:Clinical and Molecular Hepatology 2017;23(3):260-264
- CountryRepublic of Korea
- Language:English
- 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.
