Alagille Syndrome

Binita M. Kamath, MBBChir MRCP MTRThe Hospital for Sick ChildrenDivision of Gastroenterology, Hepatology and Nutrition Toronto, ONCanada Kathleen M. Loomes, MDChildren's Hospital of PhiladelphiaDivision of Gastroenterology, Hepatology and NutritionDepartment of PediatricsPhiladelphia, PAUSA

The Alagille Syndrome: Overview and Introduction.- Bile Duct Development and the Notch Signaling Pathway.- Genetics of Alagille Syndrome.- Liver Disease in Alagille Syndrome.- Transplant Considerations in Alagille Syndrome.- Cardiac, Aortic, and Pulmonary Vascular Involvement in Alagille Syndrome.- Vascular Manifestations in Alagille Syndrome.- The Renal Sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development.- Skeletal Involvement in Alagille Syndrome.- Immune Dysregulation in Alagille Syndrome: A Feature of the Evolving Phenotype.- Health-Related Quality of Life and Neurocognition in Alagille Syndrome.- Future Therapeutic Approaches for Alagille Syndrome.