Abstract
Alagille syndrome is an embryofoetopathy, due to mutations in the gene JAG1. It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts. It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas. The other features are a peculiar facies, cardiac abnormalities, butterfly vertebrae, and ocular embryotoxon. The prognosis depends on the severity of the liver and heart diseases. Hepatocarcinoma has been reported.
Copyright © 2012. Published by Elsevier Masson SAS.
MeSH terms
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Alagille Syndrome / complications*
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Alagille Syndrome / diagnosis*
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Avitaminosis / etiology
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Avitaminosis / therapy
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Bile Ducts, Intrahepatic / abnormalities
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Biliary Tract Surgical Procedures
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Calcium-Binding Proteins / genetics
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Diet
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Humans
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Incidence
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Infant
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Intercellular Signaling Peptides and Proteins / genetics
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Jagged-1 Protein
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Liver Transplantation
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Membrane Proteins / genetics
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Mutation
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Prognosis
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Pruritus / drug therapy
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Pruritus / etiology
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Serrate-Jagged Proteins
Substances
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Calcium-Binding Proteins
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Intercellular Signaling Peptides and Proteins
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JAG1 protein, human
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Jagged-1 Protein
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Membrane Proteins
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Serrate-Jagged Proteins