Carles , Thierry Lamireau and Jean - Michel Guillard
نویسندگان
چکیده
We report on the case of a girl with type 1 Gaucher’s disease, treated from age 9 to 15 with highdose 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. Pediatrics 2002;109:1170–1173; Gaucher’s disease, enzyme replacement therapy, hepatic fibrosis. ABBREVIATIONS. GD, Gaucher’s disease; ERT, enzyme replacement therapy. Type 1 Gaucher’s disease (GD), the inherited deficiency of lysosomal glucocerebrosidase, induces systemic damage, especially hepatomegaly, splenomegaly, bone infiltration, painful attacks, but not neurologic involvement.1–3 Evolution varies considerably.1–5 In some cases, the disease does not manifest itself until adulthood, whereas in others, the vital prognosis may be poor from an early age. Hepatic failure and complications of portal hypertension are considered rare causes of death in GD; on the other hand, in the presence of portal hypertension or hepatic failure, the prognosis is very poor.1–5 Modified placental human glucocerebrosidase (Ceredase, Genzyme Corporation, Cambridge, MA) and recombinant glucocerebrosidase (Cerezyme, Genzyme Corporation) are effective means of treating type 1 GD.6–10 The present case report of a girl followed for 15 years confirms the therapeutic value of enzyme replacement therapy (ERT) but also demonstrates its limitations in the long-term, especially for hepatic fibrosis.
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