Alagille syndrome in adult patients: it is never too late.
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.
Jacquet
Antoine
A
Department of Nephrology, AP-HP, Université Paris V, Hôpital Necker, Paris.
Guiochon-Mantel
Anne
A
Noël
Laure-Hélène
LH
Sqalli
Tarik
T
Bedossa
Pierre
P
Hadchouel
Michelle
M
Grünfeld
Jean-Pierre
JP
Fakhouri
Fadi
F
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