title: Alagille syndrome in adult patients: it is never too late.
abstract: Alagille syndrome (AGS; Online Mendelian Inheritance in Man no. 118450) is a multisystem autosomal dominant disorder with highly variable expression characterized by chronic cholestasis caused by a paucity of interlobular bile ducts, skeletal abnormalities, peculiar facies, ocular abnormalities, and cardiovascular disorders. AGS is diagnosed almost exclusively in children in the setting of predominant liver manifestations or, more rarely, in their adult relatives. We report 2 patients in whom AGS was diagnosed in adulthood during the workup of renal disease in the absence of a well-defined familial history. Renal disease caused by AGS probably is underdiagnosed in adult patients.
authors.affiliation: Department of Nephrology, AP-HP, Université Paris V, Hôpital Necker, Paris.
authors.forename: Antoine
authors.initials: A
authors.lastname: Jacquet
authors.forename: Anne
authors.initials: A
authors.lastname: Guiochon-Mantel
authors.forename: Laure-Hélène
authors.initials: LH
authors.lastname: Noël
authors.forename: Tarik
authors.initials: T
authors.lastname: Sqalli
authors.forename: Pierre
authors.initials: P
authors.lastname: Bedossa
authors.forename: Michelle
authors.initials: M
authors.lastname: Hadchouel
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Grünfeld
authors.forename: Fadi
authors.initials: F
authors.lastname: Fakhouri
mesh_terms: D000328:Adult; D016738:Alagille Syndrome / Q000150:complications / Q000175:diagnosis* / Q000601:surgery*; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications / Q000175:diagnosis / Q000601:surgery; D013997:Time Factors