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Abstract Details
Alagille Syndrome: Diagnostic Challenges and Advances in Management
Diagnostics (Basel). 2020 Nov 6;10(11):907. doi: 10.3390/diagnostics10110907.
Mohammed D Ayoub12, Binita M Kamath1
Author information
1Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
2Department of Pediatrics, Faculty of Medicine, Rabigh Branch, King Abdulaziz University, P.O. Box 80205, Jeddah 21589, Saudi Arabia.
Abstract
Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, kidneys, and vasculature. The identification of JAG1 and NOTCH2 as disease-causing genes has deepened our understanding of the molecular mechanisms underlying ALGS. However, the variable expressivity of the clinical phenotype and the lack of genotype-phenotype relationships creates significant diagnostic and therapeutic challenges. In this review, we provide a comprehensive overview of the clinical characteristics and management of ALGS, and the molecular basis of ALGS pathobiology. We further describe unique diagnostic considerations that pose challenges to clinicians and outline therapeutic concepts and treatment targets that may be available in the near future.