title: Gaucher's disease and fatal hepatic fibrosis despite prolonged enzyme replacement therapy.
abstract: 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.
authors.affiliation: Department of Pediatrics, Onco-Hematology Unit, University Hospital, 33076 Bordeaux, France. yves.perel@chu-bordeaux.fr
authors.forename: Yves
authors.initials: Y
authors.lastname: Perel
authors.forename: Paulette
authors.initials: P
authors.lastname: Bioulac-Sage
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Chateil
authors.forename: Herve
authors.initials: H
authors.lastname: Trillaud
authors.forename: Jacques
authors.initials: J
authors.lastname: Carles
authors.forename: Thierry
authors.initials: T
authors.lastname: Lamireau
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Guillard
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D017809:Fatal Outcome; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy* / Q000201:enzymology; D005962:Glucosylceramidase / Q000378:metabolism / Q000627:therapeutic use*; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology / Q000473:pathology; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000209:etiology* / Q000401:mortality / Q000473:pathology; D017093:Liver Failure / Q000209:etiology / Q000473:pathology; D008297:Male; D011994:Recombinant Proteins / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D011994:Recombinant Proteins; C070292:alglucerase; D005962:Glucosylceramidase