Alagille Syndrome Dorota Gliwicz, Irena Jankowska, Joanna Pawłowska Medical Science Review - Hepatologia 2010; 10 105-108 aaICID: 911697
Article type: Review article
IC™ Value: 3.34
Abstract provided by Publisher
Alagille syndrome is a multiorgan disease inherited in an autosomal dominant pattern with a diverse expression of symptoms. It is one of the most common inherited liver disorders. Alagille syndrome results from mutation in the gene Jagged1 (JAG1) on chromosome 20 that encodes a ligand for Notch receptors, known to have a crucial role in the cell faith determination in early development. There are five major features of the disease: chronic cholestasis, characteristic facial features, cardiovascular abnormalities, ophthalmologic anomalies and skeleton defects. These are often accompanied by other minor symptoms, such as renal and intracranial vascular problems. Careful assessment of a cholestatic infant should be made to avoid misdiagnosis and unnecessary hepatoportoenterostomy procedure. The treatment of the liver disease is based on administration of ursodeoxycholic acid, fat soluble vitamins, rifampicyne. Some patients require liver transplantation due to several complications such as synthetic liver failure, intractable pruritus or malnutrition. No certain predictive factors, clinical or genetic, have been found.