Liver and intrahepatic bile ducts-nontumor

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Liver and intrahepatic bile ducts-nontumor

Developmental anomalies/cysts

Alagille's syndrome

Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 8 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.

Description
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● Also called arteriohepatic dysplasia
● Autosomal dominant, due to mutations in Jagged1 gene on #20p, which encodes a ligand for Notch1 and plays a role in epithelial-mesenchymal interactions (Development 2010;137:4061)
● Normal liver, but no portal tract bile ducts; progressive loss, may occasionally regrow, may eventually involve large caliber bile ducts; also inflammation and non-uniform hepatic fibrosis
● Chronic cholestasis due to paucity of intrahepatic bile ducts, characteristic facies, vertebral arch anomalies, supravalvular pulmonic stenosis, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys (GeneReviews™ [Internet], retrieved 8 April 2012)
● May survive into adulthood, but increased risk of hepatic failure and hepatocellular carcinoma (Eur J Hum Genet 2012;20:251)

Micro images
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Liver: sequence of basic pathological lesion

Liver: CD10 expression

Kidney: mesangioliposis

End of Liver and intrahepatic bile ducts-nontumor > Developmental anomalies/cysts > Alagille's syndrome

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