Improvement of bone disease with increased dose of glucocerebrosidase in a Gaucher disease patient who had a bone lesion presenting during low-dose enzyme replacement therapy.
In recent years, enzyme replacement therapy has been shown to be useful for the treatment of Gaucher disease. A 10 year old Japanese boy with Gaucher disease underwent splenectomy at the age of 5 years and received enzyme replacement therapy from the age of 6 years. He had avascular necrosis of the bilateral femoral heads, which was not seen at the beginning of the therapy, without deterioration of hematological variables during maintenance therapy. The enzyme dosage was increased from 20 to 120 IU/kg per month resulting in an improvement of the clinical symptoms and bone lesion. In enzyme replacement therapy, dose increase is considered to be essential for improvement in bone disease; however, it is important to watch for the development of bone lesion.
Ueda
T
T
Department of Pediatrics, Nippon Medical School, Tokyo, Japan.
Fukunaga
Y
Y
Migita
M
M
Watanabe
A
A
Kaneko
K
K
Morita
T
T
Yamamoto
M
M
D002648:Child; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005270:Femur Head / Q000187:drug effects / Q000473:pathology; D005271:Femur Head Necrosis / Q000188:drug therapy*; D005776:Gaucher Disease / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013156:Splenectomy
D005962:Glucosylceramidase