Alagille syndrome: family studies.

Renal abnormalities in a family with Alagille syndrome.

Alagille syndrome is largely unknown to the general internist because the diagnosis is usually made by a paediatrician. Nevertheless, it is important to be aware of this syndrome because it sometimes manifests later in life with a great variability in clinical presentation and important consequences for the individual patient. We therefore discuss this syndrome using a patient with the usual ch...

An unusual cause of hypertension and renal failure: a case series of a family with Alagille syndrome.

Alagille Syndrome (OMIM 118450) is a multisystem developmental disorder inherited in an autosomal dominant pattern with variable expression. It commonly manifests in children with early cholestatic jaundice due to paucity of interlobular biliary ducts. Renal involvement is less common but can take various forms including renovascular disease, renal agenesis or hypoplasia, cystic renal disease, ...

Notch Signaling Regulates Bile Duct Morphogenesis in Mice

BACKGROUND Alagille syndrome is a developmental disorder caused predominantly by mutations in the Jagged1 (JAG1) gene, which encodes a ligand for Notch family receptors. A characteristic feature of Alagille syndrome is intrahepatic bile duct paucity. We described previously that mice doubly heterozygous for Jag1 and Notch2 mutations are an excellent model for Alagille syndrome. However, our pre...

Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation

Alagille syndrome (AGS) is an autosomal-dominant multi-organ disorder involving the liver, heart, eyes, face and skeleton. In addition, various renal abnormalities have also been reported in several cases. We describe a patient with a novel frameshift mutation in exon 12 of the JAG1 gene who presented with chronic renal failure. In this family, five members of three generations had clinical fea...

Alagille Syndrome — Clinical Features and Diagnosis