Clin Mol Hepatol.
2017 Sep;23(3):260-264. 10.3350/cmh.2016.0057.
A case of Alagille syndrome presenting with chronic cholestasis in an adult
- Affiliations
-
- 1Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. yh.paik@skku.edu
- 2Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- KMID: 2400673
- DOI: http://doi.org/10.3350/cmh.2016.0057
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.
