title: Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia.
abstract: BACKGROUND
  Gaucher disease type 1 (GD1) was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed. We describe the management of eight GD1 patients in Slovenia who were diagnosed between the ages of 2 and 15 years.
  
  
  METHODS
  Patients were individually assessed to establish initial enzyme doses and monitored frequently to determine the effects of long-term enzyme dose regimens. Outcomes up to 10 years after long-term treatment are described by changes in the Zimran severity score index, chitotriosidase and acid phosphatase levels, and after 2001, bone parameters (DEXA bone mineral density scores and the MRI bone marrow burden score).
  
  
  RESULTS
  Following the initiation of enzyme therapy with individualized dose regimens (range 25-56 U/kg/14 days) and followed by a gradual reduction of doses (range 12-35 U/kg/14 days) during long-term maintenance, disease status improved in all patients as measured by the Zimran severity score index (from a mean of 11.25 [median 11.5] before therapy to a mean of 4.12 [median 3.5] at last report). Anemia and leucopenia resolved in all patients, chitotriosidase and acid phosphatase levels decreased in all patients (and by over 75% in six patients) within 1 year of treatment. Bone marrow burden scores improved in all monitored patients and DXA scores improved in six of seven monitored patients.
  
  
  CONCLUSIONS
  We conclude that enzyme therapy with relatively low, individualized dose regimens is well-tolerated and effective in children and young adults with GD1 disease, who are regularly monitored for changes in disease status.
authors: Division of Pediatrics, Unit of Hemato-oncology, University Medical Centre Ljubljana, Ljubljana, Slovenia. majda.benedik-dolnicar@mf.uni-lj.si
authors: Majda
authors: M
authors: Benedik-Dolničar
authors: Lidija
authors: L
authors: Kitanovski
mesh_terms: D000135:Acid Phosphatase / Q000097:blood; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004305:Dose-Response Relationship, Drug; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology / Q000453:epidemiology; D005962:Glucosylceramidase / Q000008:administration & dosage*; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007223:Infant; D007262:Infusions, Intravenous; D008297:Male; D015995:Prevalence; D012189:Retrospective Studies; D017524:Slovenia / Q000453:epidemiology; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C070292:alglucerase; D000135:Acid Phosphatase; D006596:Hexosaminidases; C086400:chitotriosidase; D005962:Glucosylceramidase; C090568:imiglucerase