戈谢病和法布里病：从理解病理生理学到合理治疗。
Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies.
作者信息
Brady R O
机构信息
Developmental and Metabolic Neurology Branch, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892-1260, USA.
出版信息
Acta Paediatr Suppl. 2003 Dec;92(443):19-24. doi: 10.1111/j.1651-2227.2003.tb00215.x.
UNLABELLED
Over the past 40 years there has been remarkable development in our understanding of the pathophysiology of lysosomal storage disorders. This review describes the research carried out on the sphingolipid storage disorders from the first demonstration of the underlying metabolic abnormality in Gaucher disease to the development of enzyme replacement therapy for Gaucher and Fabry diseases. Initial developments in gene therapy are also described.
CONCLUSION
The introduction of enzyme replacement therapy has provided a lifeline for patients with Gaucher or Fabry disease. It is anticipated that future developments, including gene therapy, will provide additional therapeutic options.
未标注
在过去40年里，我们对溶酶体贮积症病理生理学的理解有了显著进展。本综述描述了从戈谢病潜在代谢异常的首次证明到戈谢病和法布里病酶替代疗法的发展，在鞘脂贮积症方面开展的研究。还描述了基因治疗的初步进展。
结论
酶替代疗法的引入为戈谢病或法布里病患者提供了一条生命线。预计包括基因治疗在内的未来进展将提供更多治疗选择。
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