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: Yves Perel, Paulette Bioulac-Sage, Jean-François Chateil, Herve Trillaud, Jacques Carles, Thierry Lamireau, Jean-Michel Guillard
• Journal: Pediatrics (Pediatrics) Vol. 109 Issue 6 Pg. 1170-3 (Jun 2002) ISSN: 1098-4275 [Electronic] United States
• PMID: 12042560 (Publication Type: Case Reports, Comparative Study, Journal Article)

Chemical References

• Recombinant Proteins
• alglucerase
• Glucosylceramidase

Topics

• Adolescent
• Adult
• Child
• Fatal Outcome
• Female
• Gaucher Disease (complications, drug therapy, enzymology)
• Glucosylceramidase (metabolism, therapeutic use)
• Humans
• Hypertension, Portal (etiology, pathology)
• Leukocytes (enzymology)
• Liver (pathology)
• Liver Cirrhosis (etiology, mortality, pathology)
• Liver Failure (etiology, pathology)
• Male
• Recombinant Proteins (therapeutic use)
• Treatment Outcome