title: Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation.
abstract: 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 features implicated in AGS. Three members had adult-onset renal dysfunction with proteinuria, and two of them required haemodialysis therapy. AGS should be considered in the differential diagnosis of proteinuric renal disease, even in adult patients.
authors.affiliation: Division of Nephrology , Kanazawa Medical University , Uchinada, Ishikawa , Japan.
authors.forename: Norifumi
authors.initials: N
authors.lastname: Hayashi
authors.affiliation: Division of Nephrology , Kanazawa Medical University , Uchinada, Ishikawa , Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Okuyama
authors.affiliation: Division of Nephrology , Kanazawa Medical University , Uchinada, Ishikawa , Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Matsui
authors.affiliation: Division of Nephrology , Kanazawa Medical University , Uchinada, Ishikawa , Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Yamaya
authors.affiliation: Department of Pathology and Laboratory Medicine , Kanazawa Medical University , Uchinada, Ishikawa , Japan.
authors.forename: Eriko
authors.initials: E
authors.lastname: Kinoshita
authors.affiliation: Department of Pathology and Laboratory Medicine , Kanazawa Medical University , Uchinada, Ishikawa , Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Minato
authors.affiliation: Center for Medical Genetics , Kanazawa Medical University , Uchinada, Ishikawa , Japan.
authors.forename: Yo
authors.initials: Y
authors.lastname: Niida
authors.affiliation: Division of Nephrology , Kanazawa Medical University , Uchinada, Ishikawa , Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Yokoyama
keywords: Alagille syndrome; notch signalling pathway; proteinuria