Alagille syndrome in adult patients: it is never too late

Am J Kidney Dis. 2007 May;49(5):705-9. doi: 10.1053/j.ajkd.2007.02.262.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alagille Syndrome / complications
  • Alagille Syndrome / diagnosis*
  • Alagille Syndrome / surgery*
  • Female
  • Humans
  • Kidney Failure, Chronic / complications
  • Kidney Failure, Chronic / diagnosis
  • Kidney Failure, Chronic / surgery
  • Time Factors