[Enzyme replacement therapy: a new treatment concept in Gaucher disease].
Until recently the treatment of lysosomal storage disorders was entirely supportive. A new enzyme replacement therapy has become available in Gaucher's disease, a lipid storage disorder that is due to a genetic defect of beta-glucocerebrosidase. Intravenous infusions of modified beta-glucocerebrosidase has produced clinical improvement in Gaucher patients, with regression of organomegaly and increase in blood counts. At the Children's Hospital of Mainz 13 patients (6 children and 7 adults) were treated with alglucerase on a high-dosage regimen (60 units per kilogram every two weeks). A decrease in liver and spleen size was observed 4 to 6 months after commencement of therapy. Hemoglobin and the number of platelets increased. In some cases, a reduction of the dosage was possible after a year of enzyme replacement-therapy. A growth spurt was observed in the children. The availability of enzyme replacement therapy is limited by its high cost; however, in the future gene transfer may become the treatment of choice.
Beck
M
M
Universitäts-Kinderklinik, Mainz, Bundesrepublik Deutschland.
Mengel
E
E
Barone
R
R
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004305:Dose-Response Relationship, Drug; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D018014:Gene Transfer Techniques; D005962:Glucosylceramidase / Q000008:administration & dosage* / Q000235:genetics; D006452:Hemoglobinometry; D006801:Humans; D007223:Infant; D007262:Infusions, Intravenous; D008297:Male; D010976:Platelet Count / Q000187:drug effects; D016896:Treatment Outcome
C070292:alglucerase; D005962:Glucosylceramidase
Enzym-Ersatz-Therapie: Ein neues Behandlungsprinzip bei M. Gaucher.