This text provides a concise yet comprehensive overview of Alagille syndrome. The book reviews the pathophysiology and genetics of the disorder, discusses recent molecular advances and its impact on diagnostics, and describes management challenges and strategies. The text also touches upon future treatment options.
Written by experts in the field, Alagille Syndrome: Pathogenesis and Clinical Management is a valuable resource for physicians and researchers dealing with this disorder, one that will help guide patient management and stimulate investigative efforts.
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.
Binita M. Kamath, MBBChir MRCP MTRThe Hospital for Sick ChildrenDivision of Gastroenterology, Hepatology and Nutrition Toronto, ONCanada Kathleen M. Loomes, MDChildrens Hospital of PhiladelphiaDivision of Gastroenterology, Hepatology and NutritionDepartment of PediatricsPhiladelphia, PAUSA
