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Updated: May 16, 2026

Determining Bile Duct Density in the Mouse Liver
Published on: April 30, 2019
[Alagille syndrome]
Mirta Ciocca1, Fernando Alvarez
1Hepatología y Trasplante Hepático Pediátrico, Hospital Alemán, Buenos Aires, Argentina. mciocca@intramed.net
Abstract:
Alagille syndrome (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused by mutations in JAGGED1 (more than 90%) and in NOTCH2. Differential diagnosis include: infections, genetic-metabolic diseases, biliary atresia, idiopathic cholestasis. Cholestasis, pruritus and xanthomas have been successfully treated with choleretic agents (ursodeoxycholic acid) and other medications (cholestyramine, rifampin, naltrexone). In certain cases, partial external biliary diversion has also proved successful. Liver transplantation is indicated in children with cirrhosis and liver failure.
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