对基因组医学的思考：溶酶体贮积病的酶替代疗法。
Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases.
机构信息
Dana-Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA.
出版信息
Genome Med. 2009 Dec 9;1(12):114. doi: 10.1186/gm114.
Abstract
The lysosomal storage diseases, such as Gaucher's disease, mucopolysaccharidosis I, II and IV, Fabry's disease, and Pompe's disease, are rare inherited disorders whose symptoms result from enzyme deficiency causing lysosomal accumulation. Until effective gene-replacement therapy is developed, expensive, and at best incomplete, enzyme-replacement therapy is the only hope for sufferers of rare lysosomal storage diseases. Preventive strategies involving carrier detection should be a priority toward the successful management of these conditions.
摘要
溶酶体贮积症，如戈谢病、黏多糖贮积症 I、II 和 IV 型、法布雷病和庞贝病，是罕见的遗传性疾病，其症状是由于酶缺乏导致溶酶体堆积引起的。在开发出有效的基因替代疗法之前，昂贵且充其量只是不完全的酶替代疗法是治疗罕见溶酶体贮积症患者的唯一希望。涉及携带者检测的预防策略应该是成功管理这些疾病的优先事项。
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