title: Effect of low-dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement.
abstract: Gaucher disease, the most common glycolipid storage disorder, is characterized by hepatosplenomegaly and skeletal involvement. Enzyme replacement therapy in both the high- and low-dose regimens has been shown to be effective in reducing the organomegaly and improving the hematological parameters of symptomatic patients with type I disease. Herein we report subjective and objective responses of bone-related complications after 2 to 4 years of low-dose enzyme replacement therapy in 14 adult type I patients with severe skeletal involvement pre-treatment. We discuss our results relative to those reported in patients on the high-dose regimen, as well as with reference to a single patient who developed new avascular necrosis despite objective improvement in radiological studies.
authors.affiliation: Gaucher Clinic, Shaare-Zedek Medical Center, Jerusalem, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Elstein
authors.forename: I
authors.initials: I
authors.lastname: Hadas-Halpern
authors.forename: M
authors.initials: M
authors.lastname: Itzchaki
authors.forename: A
authors.initials: A
authors.lastname: Lahad
authors.forename: A
authors.initials: A
authors.lastname: Abrahamov
authors.forename: A
authors.initials: A
authors.lastname: Zimran
mesh_terms: D000293:Adolescent; D000328:Adult; D001847:Bone Diseases / Q000209:etiology* / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000188:drug therapy; D005962:Glucosylceramidase / Q000009:adverse effects* / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008875:Middle Aged; D009336:Necrosis
chemical_list: C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase