Gaucher's disease and fatal hepatic fibrosis despite prolonged enzyme replacement therapy.

Author(s): Perel Y, Bioulac-Sage P, Chateil JF, Trillaud H, Carles J, Lamireau T, Guillard JM

Affiliation(s): Department of Pediatrics, Onco-Hematology Unit, University Hospital, 33076 Bordeaux, France. yves.perel@chu-bordeaux.fr

Publication date & source: 2002-06, Pediatrics., 109(6):1170-3.

Publication type: Case Reports; Comparative Study

We report on the case of a girl with type 1 Gaucher's disease, treated from age 9 to 15 with high-dose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher's disease, alternative strategies such as fractionated or further increased ERT, gene therapy, or glucosyltransferase inhibitor should be explored.