Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management.

Mohammed D Ayoub, Binita M Kamath

Journal: Clinics in liver disease 2022;26(3):355-370

PMID: 35868679

Full Text on Elsevier Science View on PubMed

Abstract

Alagille syndrome (ALGS) is a complex heterogenous disease with a wide array of clinical manifestations in association with cholestatic liver disease. Major clinical and genetic advancements have taken place since its first description in 1969. However, clinicians continue to face considerable challenges in the management of ALGS, particularly in the absence of targeted molecular therapies. In this article, we provide an overview of the broad ALGS phenotype, current approaches to diagnosis and with particular focus on key clinical challenges encountered in the management of these patients.

Address: Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada; Department of Pediatrics, Rabigh Branch, King Abdulaziz University, PO Box 80205, Jeddah 21589, Saudi Arabia.; Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Electronic address: [email protected].

DOI: 10.1016/j.cld.2022.03.002

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MeSH Terms: Alagille Syndrome, Humans, Jagged-1 Protein, Phenotype, Receptor, Notch2