| Fabry病研究进展 |
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| 引用本文： | 邹敏书,余健. Fabry病研究进展[J]. 国际儿科学杂志, 2010, 37(3). DOI: 10.3760/cma.j.issn.1673-4408.2010.03.020 |
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| 作者姓名： | 邹敏书 余健 |
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| 作者单位： | 广州军区武汉总医院儿科,430070 |
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| 摘 要： | Fabry病是一种遗传代谢病,与a-半乳糖苷酶A活性下降有关.主要临床特点是发作性肢体疼痛、皮肤血管角质瘤,逐渐出现心、脑、肾等器官损害.Fabry病虽然不能治愈,但早期诊断,及时给予酶替代治疗可明显改变其预后.
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| 关 键 词： | Fabry病 肾病 酶替代治疗 |
Progress in Fabry disease |
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| ZOU Min-Shu,YU Jian. Progress in Fabry disease[J]. International Journal of Pediatrics, 2010, 37(3). DOI: 10.3760/cma.j.issn.1673-4408.2010.03.020 |
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| Authors: | ZOU Min-Shu YU Jian |
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| Abstract: | Fabry disease is an inherited metabolic disease, resulting from a deficiency of the enzyme a-galactosidase A activity. Principal clinical manifestation of Fabry disease was limb pain episodes, angioceratoma, and progressive damage of heart,brain, kidney. Although Fabry disease cannot be cured at present,early diagnosis and enzyme replacement therapy can change the prognosis completely. |
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| Keywords: | Fabry disease Nephropathy Enzyme replacement therapy |
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