title: Effects of imiglucerase treatment on traumatic fracture and bone and blood abnormalities in a patient with previously untreated type 1 gaucher disease.
abstract: OBJECTIVE
  This letter reports on the effect of enzyme replacement therapy with imiglucerase on bone healing and bone and blood abnormalities in a woman with previously untreated type 1 Gaucher disease (GD).
  
  
  METHODS
  The 49-year-old patient had been diagnosed with GD at the age of 28 years and had previously undergone splenectomy. She presented with pseudarthrosis 14 months after sustaining a traumatic fracture of the tibia and fibula. Therapy was begun with imiglucerase 60 U/kg q2wk. The effects of treatment on bone healing were monitored radiographically, and effects on blood and bone marrow biology were monitored by hemograms, myelograms, and hematopoietic and mesenchymal clonogenic assays.
  
  
  RESULTS
  Objective bone healing was observed starting in the third month of imiglucerase treatment. Blood abnormalities normalized and bone marrow parameters improved over the first 9 months, including a decrease in Gaucher cells, an increase in bone marrow CD34+ cell cloning efficiency, and the appearance of mesenchymal progenitors.
  
  
  CONCLUSIONS
  This research letter reports the results of hematologic and bone evaluations during enzyme replacement therapy with imiglucerase in a woman with previously untreated type 1 GD who presented with a traumatic fracture.
authors.affiliation: Service d'Hématologie Biologique-Immunologie, CHU, Clermont-Ferrand, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boiret-Dupré
authors.forename: Stéphane
authors.initials: S
authors.lastname: Descamps
authors.forename: Marie Ange
authors.initials: MA
authors.lastname: Coudoré
authors.forename: Chantal
authors.initials: C
authors.lastname: Rapatel
authors.forename: Mathieu
authors.initials: M
authors.lastname: Kuentz
authors.forename: Sylvie
authors.initials: S
authors.lastname: Pereira
authors.forename: Josiane
authors.initials: J
authors.lastname: Tournadre
authors.forename: Juliette
authors.initials: J
authors.lastname: Berger
authors.forename: Philippe
authors.initials: P
authors.lastname: Morell
authors.forename: Marc G
authors.initials: MG
authors.lastname: Berger
mesh_terms: D000058:Accidental Falls; D001854:Bone Marrow Cells / Q000473:pathology; D056947:Enzyme Replacement Therapy; D005260:Female; D005360:Fibula / Q000000981:diagnostic imaging / Q000293:injuries*; D005593:Fracture Fixation, Internal; D017102:Fracture Healing; D005776:Gaucher Disease / Q000097:blood / Q000150:complications / Q000201:enzymology / Q000628:therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006402:Hematologic Diseases / Q000097:blood / Q000201:enzymology / Q000209:etiology / Q000628:therapy*; D006801:Humans; D008875:Middle Aged; D011542:Pseudarthrosis / Q000000981:diagnostic imaging / Q000201:enzymology / Q000209:etiology / Q000628:therapy*; D011859:Radiography; D013978:Tibial Fractures / Q000150:complications / Q000000981:diagnostic imaging / Q000201:enzymology / Q000628:therapy*; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase