Document Detail

Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience.
MedLine Citation:
PMID:  17703370     Owner:  NLM     Status:  MEDLINE    
AIM: This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country. PATIENTS AND METHODS: 24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored. RESULTS: Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65,692/mm3). Haemoglobin values normalized after 6 months and the platelet count increased to 147,818/mm3 after 18 months of treatment. Splenomegaly improved (mean 13.8x to 5.6x normal), hepatomegaly improved (mean 1.4x to 1.06x normal), the severity score decreased (mean 15.9 to 8.4), plasma chitotriosidase levels showed a reduction from 40,956 to 11,266 nmol/h per ml plasma. Bone disease improved clinically in all patients; bone radiography and osteodensitometry showed no further disease progress. We observed a mean weight gain of 4.3 kg, an improvement in quality of life, and the absence of therapeutic adverse events. CONCLUSIONS: Enzyme replacement therapy administered for 18 months in Romanian patients with Gaucher disease type I led to a marked improvement in haematological parameters and hepato- and splenomegaly. In the majority of patients we observed no further progress of bone disease; for an improvement in skeletal disease, a longer treatment period is required.
P Grigorescu Sido; C Drugan; V Cret; C Al-Kzouz; C Denes; C Coldea; A Zimmermann
Publication Detail:
Type:  Clinical Trial; Journal Article     Date:  2007-08-20
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  30     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-10-10     Completed Date:  2007-10-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  783-9     Citation Subset:  IM    
1st Pediatric Clinic, Iuliu Hatieganu University of Medicine and Pharmacy Cluj, 68 Motilor str., CP 494, of Cluj 1, 400370, Cluj, Romania.
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MeSH Terms
Anemia / drug therapy,  etiology
Bone Diseases / drug therapy,  etiology
Combined Modality Therapy
Follow-Up Studies
Gaucher Disease / blood,  complications,  drug therapy*,  surgery
Glucosylceramidase / adverse effects,  therapeutic use*
Hemoglobins / metabolism
Hexosaminidases / blood
Liver Diseases / drug therapy,  etiology
Middle Aged
Platelet Count
Quality of Life
Recombinant Proteins / therapeutic use
Severity of Illness Index
Splenomegaly / drug therapy,  etiology
Thrombocytopenia / drug therapy,  etiology
Time Factors
Treatment Outcome
Weight Gain / drug effects
Reg. No./Substance:
0/Hemoglobins; 0/Recombinant Proteins; EC 3.2.1.-/Hexosaminidases; EC 3.2.1.-/chitotriosidase; EC 3.2.1.-/imiglucerase; EC

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