Abstract:
:The introduction of substrate reduction therapy (SRT) using miglustat (Zavesca(R)) gives physicians and patients a choice of treatment options for type 1 Gaucher's disease. Enzyme replacement therapy (ERT) has proven a successful approach to treating the haematologic abnormalities and organomegaly. However, long-term complications such as skeletal disease and subtle abnormalities in the nervous system do not respond as well, if at all, to ERT. The basic concept behind ERT is acceleration of the degradation of accumulated cerebroside. In contrast, SRT prevents the accumulation of glucocerebroside by inhibiting the enzyme responsible for its synthesis. We have used the European Working Group on Gaucher's disease guidelines as a basis for switching patients, all of whom had previously been treated with ERT, to miglustat. Our initial experience with our cohort of six patients with type I Gaucher's disease indicates that oral miglustat provides an effective alternative for patients unsuitable for ERT. The successful use of enzyme replacement therapy over the past decade has completely changed the outlook for patients with Gaucher's disease in the developed world such that for most adults, treatment successfully improves the organomegaly and blood counts. However, intravenous therapy is not suitable for all patients. In addition, it is clear that enzyme replacement therapy does not reverse all of the pathology of adult Gaucher's disease. Future challenges include improving therapy, offering patients choice, improving our understanding of the pathophysiology and making treatment available worldwide.
journal_name
Eur J Intern Medjournal_title
European journal of internal medicineauthors
Mehta Adoi
10.1016/j.ejim.2006.07.003subject
Has Abstractpub_date
2006-11-01 00:00:00pages
S13-5eissn
0953-6205issn
1879-0828pii
S0953-6205(06)00158-0journal_volume
17 Supplpub_type
杂志文章abstract:OBJECTIVE:The use of commercially available noninvasive markers for chronic hepatitis B (CHB) related fibrosis is not widely available in developing countries so clinicians in those countries frequently use free alternatives. We aimed to create an optimized algorithm for selection of patients with the highest probabili...
journal_title:European journal of internal medicine
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更新日期:2015-10-01 00:00:00
abstract::A 60-year-old male was bitten by a venomous snake (Vipera ammodytes) and gradually developed signs of an allergic reaction including generalized itching, generalized rash, and chest discomfort. This was followed by severe retrosternal pain with electrocardiographic evidence of an inferior myocardial ischemia progressi...
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journal_title:European journal of internal medicine
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journal_title:European journal of internal medicine
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doi:10.1016/j.ejim.2010.08.003
更新日期:2010-12-01 00:00:00
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更新日期:2005-06-01 00:00:00
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更新日期:2015-05-01 00:00:00
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journal_title:European journal of internal medicine
pub_type: 杂志文章,多中心研究
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更新日期:2015-05-01 00:00:00
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pub_type: 杂志文章,多中心研究,随机对照试验
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pub_type: 杂志文章,评审
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更新日期:2005-06-01 00:00:00
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journal_title:European journal of internal medicine
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更新日期:2013-07-01 00:00:00
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更新日期:2020-04-01 00:00:00
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更新日期:2001-07-01 00:00:00
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更新日期:2018-01-01 00:00:00
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更新日期:2007-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ejim.2006.09.001
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