Alagille syndrome is a highly variable, autosomal dominant disorder that affects the liver, heart, eyes, face, skeleton, kidneys, and vascular system. Much has been learned about the genetics of this disorder, which is caused primarily by mutations in the Notch signaling pathway ligand JAGGED1; however, the medical management of this condition is complex and continues to generate controversy. The significant variability of organ involvement requires the managing physician to have an understanding of the breadth and interplay of the variable manifestations. Furthermore, the liver disease in particular requires an appreciation of the natural history and evolution of the profound cholestasis.
*Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, USA
†Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, USA.
Received 13 July, 2009
Accepted 17 February, 2010
Address correspondence and reprint requests to Binita M. Kamath, MBBChir, Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, 555 University Ave, Toronto, ON M5G 1X8, Canada (e-mail: firstname.lastname@example.org).
The authors report no conflicts of interest.