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Alagille Syndrome: Diagnostic Challenges and Advances in Management

1
Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada
2
Department of Pediatrics, Faculty of Medicine, Rabigh Branch, King Abdulaziz University, P.O. Box 80205, Jeddah 21589, Saudi Arabia
*
Author to whom correspondence should be addressed.
Diagnostics 2020, 10(11), 907; https://doi.org/10.3390/diagnostics10110907
Received: 17 September 2020 / Revised: 2 November 2020 / Accepted: 4 November 2020 / Published: 6 November 2020
(This article belongs to the Special Issue Pediatric Liver Diseases)
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. View Full-Text
Keywords: Alagille syndrome; bile duct paucity; JAG1; NOTCH2; intestinal bile acid transporters Alagille syndrome; bile duct paucity; JAG1; NOTCH2; intestinal bile acid transporters
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MDPI and ACS Style

Ayoub, M.D.; Kamath, B.M. Alagille Syndrome: Diagnostic Challenges and Advances in Management. Diagnostics 2020, 10, 907. https://doi.org/10.3390/diagnostics10110907

AMA Style

Ayoub MD, Kamath BM. Alagille Syndrome: Diagnostic Challenges and Advances in Management. Diagnostics. 2020; 10(11):907. https://doi.org/10.3390/diagnostics10110907

Chicago/Turabian Style

Ayoub, Mohammed D., and Binita M. Kamath 2020. "Alagille Syndrome: Diagnostic Challenges and Advances in Management" Diagnostics 10, no. 11: 907. https://doi.org/10.3390/diagnostics10110907

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