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Medical Management of Alagille Syndrome

Kamath, Binita M*; Loomes, Kathleen M; Piccoli, David A

Journal of Pediatric Gastroenterology & Nutrition: June 2010 - Volume 50 - Issue 6 - p 580–586
doi: 10.1097/MPG.0b013e3181d98ea8
Invited Review

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: binita.kamath@sickkids.ca).

The authors report no conflicts of interest.

© 2010 Lippincott Williams & Wilkins, Inc.