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https://hdl.handle.net/2440/17334
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Type: | Journal article |
Title: | Enzyme replacement therapy for Gaucher disease in Australia |
Author: | Goldblatt, J. Szer, J. Fletcher, J. McGill, J. Rowell, J. Wilson, M. |
Citation: | Internal Medicine Journal, 2005; 35(3):156-161 |
Publisher: | Blackwell Publishing Asia |
Issue Date: | 2005 |
ISSN: | 1444-0903 1445-5994 |
Statement of Responsibility: | J. Goldblatt, J. Szer, J. M. Fletcher, J. McGill, J. A. Rowell and M. Wilson |
Abstract: | <h4>Aim</h4>To study the effectiveness of a specific national programme of enzyme replacement therapy (ERT) for patients with severe forms of Gaucher disease, a disorder of sphingolipid metabolism resulting from an inherited deficiency of the lysosomal enzyme beta-Glucocerebrosidase.<h4>Methods</h4>Prospective analysis of data submitted at entry and every 6 months on therapy. The responses of haemoglobin (Hb) and platelet (plt) concentrations, liver and spleen volumes were assessed.<h4>Patients</h4>Forty-eight patients were treated with ERT for a minimum of 6 months. Forty patients had Type 1 disease and eight had Type 3B. The age range was 1-70 years (median 24 years). Duration of therapy at the time of analysis was 6-114 months.<h4>Results</h4>Thirty-six per cent of patients started with a normal Hb increasing to 76% after 6 months. The mean improvement in Hb from baseline to the end of study period was 20 g/L, when the Hb was normal in 85% (41 patients). Thirty per cent of patients had a normal plt count at the start of therapy, with a more gradual increase in the count at 6 monthly intervals of 50, 91, 108 and 142% of starting value. Seventy-five per cent of patients had a normal plt count at the end of study. Spleen volumes reduced by a mean of 56% in 33 evaluable patients, and the liver by 27% in 30 of 38 evaluable patients. Eight patients had an increase in liver volume of 28%.<h4>Conclusion</h4>Enzyme replacement therapy produced a spectrum of beneficial responses in patients with Gaucher disease, but all had some evidence of reversal of haematological complications and/or reduction in visceromegaly. Future analyses will examine the effect of therapy on bone disease, prepubertal growth and quality of life. |
Keywords: | Liver Spleen Blood Cells Fibroblasts Humans Gaucher Disease Glucosylceramidase Hemoglobins Tomography, X-Ray Computed Magnetic Resonance Imaging Platelet Count Treatment Outcome Drug Therapy, Combination Infusions, Intravenous Drug Administration Schedule Follow-Up Studies Prospective Studies Genotype Mutation Adolescent Adult Aged Middle Aged Child Child, Preschool Infant Female Male |
Description: | Gaucher disease; enzyme replacement; inherited; metabolic. |
DOI: | 10.1111/j.1445-5994.2004.00765.x |
Published version: | http://dx.doi.org/10.1111/j.1445-5994.2004.00765.x |
Appears in Collections: | Aurora harvest 6 Paediatrics publications |
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