Cholestatic liver disease in long-term infantile nephropathic cystinosis.

  title={Cholestatic liver disease in long-term infantile nephropathic cystinosis.},
  author={Tom Cornelis and Kathleen Bm Claes and Pieter Gillard and Els Nijs and Tania A Roskams and Rita Lombaerts and Frederik Nevens and David M Cassiman},
  journal={Journal of gastroenterology and hepatology},
  volume={23 8 Pt 2},
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… CONTINUE READING