Alagille syndrome: an overview

Clin Res Hepatol Gastroenterol. 2012 Jun;36(3):275-7. doi: 10.1016/j.clinre.2012.03.019. Epub 2012 Apr 18.

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.

MeSH terms

  • Alagille Syndrome / complications*
  • Alagille Syndrome / diagnosis*
  • Avitaminosis / etiology
  • Avitaminosis / therapy
  • Bile Ducts, Intrahepatic / abnormalities
  • Biliary Tract Surgical Procedures
  • Calcium-Binding Proteins / genetics
  • Diet
  • Humans
  • Incidence
  • Infant
  • Intercellular Signaling Peptides and Proteins / genetics
  • Jagged-1 Protein
  • Liver Transplantation
  • Membrane Proteins / genetics
  • Mutation
  • Prognosis
  • Pruritus / drug therapy
  • Pruritus / etiology
  • Serrate-Jagged Proteins

Substances

  • Calcium-Binding Proteins
  • Intercellular Signaling Peptides and Proteins
  • JAG1 protein, human
  • Jagged-1 Protein
  • Membrane Proteins
  • Serrate-Jagged Proteins