Gaucher's disease and fatal hepatic fibrosis despite prolonged enzyme replacement therapy.
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.
Perel
Yves
Y
Department of Pediatrics, Onco-Hematology Unit, University Hospital, 33076 Bordeaux, France. yves.perel@chu-bordeaux.fr
Bioulac-Sage
Paulette
P
Chateil
Jean-François
JF
Trillaud
Herve
H
Carles
Jacques
J
Lamireau
Thierry
T
Guillard
Jean-Michel
JM
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
D011994:Recombinant Proteins; C070292:alglucerase; D005962:Glucosylceramidase