title: Progression of bone disease without deterioration of hematological parameters in a child with Gaucher disease during low-dose glucocerebrosidase therapy.
abstract: Gaucher disease is the most prevalent lysosomal storage disease. Although the efficacy of the macrophage-targeted human placental glucocerebrosidase is well known, it is still difficult to develop definitive guidelines regarding the appropriate therapy schedule. We describe an 8-year-old Japanese boy with Gaucher disease who had avascular necrosis of the right femoral head without deterioration of hematological variables during low-dose enzyme replacement therapy (12-13 IU/kg). This case demonstrates that continuous normal hematological findings may not preclude progression of other aspects of Gaucher disease in some patients during enzyme replacement therapy.
authors: Department of Pediatrics, Nippon Medical School, Japan.
authors: M
authors: M
authors: Migita
authors: Y
authors: Y
authors: Fukunaga
authors: T
authors: T
authors: Ueda
authors: A
authors: A
authors: Watanabe
authors: T
authors: T
authors: Morita
authors: M
authors: M
authors: Yamamoto
mesh_terms: D001772:Blood Cell Count; D002648:Child; D005271:Femur Head Necrosis / Q000097:blood / Q000209:etiology*; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage*; D006801:Humans; D008297:Male
chemical_list: D005962:Glucosylceramidase