[Response criteria for enzyme substitution in Gaucher disease].
Recently the intravenous enzyme replacement therapy with modified beta-glucocerebrosidase has become available for patients with M. Gaucher. We report here the considerable improvement of activity and vigor in a 5 year old girl with type 1 M. Gaucher administering 60 IU/kg every two weeks for 6 months. The platelet count increased from 82-96/nl to more than 150/nl and hemoglobin from 10.8 to more than 12 g/dl. Serum acid phosphatase decreased from 14.6 U/l to 5.9. U/l and angiotensin-converting enzyme from 327 to 102 U/l. The estimation of splenic volume by MRT showed a decrease by 40%, while liver size was not reduced within 6 months of therapy. MRT proved to be useful to demonstrate the bone marrow infiltration by Gaucher cells. The enzyme replacement therapy resulted in an objective response. No side effects have been observed so far. The extreme high treatment costs enforce a considerable dose reduction for maintenance therapy.
Berthold
F
F
Klinik und Poliklinik für Kinderheilkunde, Universität Köln.
Sieverts
H
H
Benz-Bohm
G
G
Landwehr
P
P
Harzer
K
K
D000135:Acid Phosphatase / Q000097:blood; D000483:Alleles; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics / Q000628:therapy*; D005838:Genotype; D005962:Glucosylceramidase / Q000008:administration & dosage* / Q000009:adverse effects; D006801:Humans; D007262:Infusions, Intravenous; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D007703:Peptidyl-Dipeptidase A / Q000097:blood
D000135:Acid Phosphatase; D005962:Glucosylceramidase; D007703:Peptidyl-Dipeptidase A
Response-Kriterien für die Enzymsubstitution bei Morbus Gaucher.