title: Cholestatic liver disease in long-term infantile nephropathic cystinosis.
abstract: BACKGROUND
  Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life-threatening organ dysfunction. Infantile cystinosis typically leads to end-stage renal disease, necessitating renal replacement therapy. Liver disease in cystinosis is rare and is mostly reported as nodular regenerative hyperplasia leading to portal hypertension.
  
  
  METHODS
  Two patients with infantile cystinosis developed cholestatic liver disease (increasing alkaline phosphatases, gamma-glutamyltransferase and mild increase in transaminases). Severe accumulation of cystine was demonstrated on liver biopsy, predominantly localized in Kupffer cells, together with morphological signs of sclerosing cholangitis on liver biopsy. One patient showed changes compatible with sclerosing cholangitis on magnetic resonance imaging. Therapy with ursodeoxycholic acid led to biochemical improvement in one and stabilization in the other patient.
  
  
  CONCLUSIONS
  Long-term infantile nephropathic cystinosis can be associated with a form of sclerosing cholangitis, which can respond to therapy with ursodeoxycholic acid.
authors.affiliation: Department of Nephrology, University Hopsital Gasthuisberg, University of Leuven, Leuven, Belgium.
authors.forename: Tom
authors.initials: T
authors.lastname: Cornelis
authors.forename: Kathleen
authors.initials: K
authors.lastname: Claes
authors.forename: Pieter
authors.initials: P
authors.lastname: Gillard
authors.forename: Els
authors.initials: E
authors.lastname: Nijs
authors.forename: Tania
authors.initials: T
authors.lastname: Roskams
authors.forename: Rita
authors.initials: R
authors.lastname: Lombaerts
authors.forename: Frederik
authors.initials: F
authors.lastname: Nevens
authors.forename: David
authors.initials: D
authors.lastname: Cassiman
mesh_terms: D000328:Adult; D002756:Cholagogues and Choleretics / Q000627:therapeutic use*; D002780:Cholestasis, Intrahepatic / Q000097:blood / Q000188:drug therapy* / Q000209:etiology; D003554:Cystinosis / Q000150:complications*; D005260:Female; D006801:Humans; D008111:Liver Function Tests; D008297:Male; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use*
chemical_list: D002756:Cholagogues and Choleretics; D014580:Ursodeoxycholic Acid