Politei Juan Manuel
Sección de Enfermedades Neuromusculares, Departamento de Neurología, Hospital General de Agudos Juan A. Fernández, Cerviño, Buenos Aires, Argentina.
Rev Neurol. 2010 Nov 1;51(9):561-70.
Fabry's disease is a consequence of the deficiency of lysosomal alpha-galactosidase A, which gives rise to excessive depositing of glycosphingolipids in endothelial cells, smooth muscle cells in vessels, podocytes, neurons, etc. The symptoms begin in childhood, with neuropathic pain, and progress towards kidney and heart failure, as well as cerebro-vascular accidents from the third decade of life onwards.
This review presents the changes in the pathophysiological concepts that have been acquired in the nine years since enzyme replacement therapy started to be employed. The earlier enzyme replacement is started, the more effective it is, which thereby calls for a review of the criteria for its use in patients. Furthermore, the need for concomitant treatments is also evaluated based on the pathophysiology of the disease.
The joint use of enzyme replacement therapy, antiproteinuric drugs, statins and acetylsalicylic acid must be evaluated as initial treatment in all patients with Fabry's disease.
法布里病是溶酶体α - 半乳糖苷酶A缺乏的结果，这会导致糖鞘脂在内皮细胞、血管平滑肌细胞、足细胞、神经元等中过度沉积。症状始于儿童期，表现为神经性疼痛，从生命的第三个十年起逐渐发展为肾衰竭、心力衰竭以及脑血管意外。
本综述呈现了自开始采用酶替代疗法九年来所获得的病理生理概念的变化。酶替代疗法开始得越早，效果越好，因此需要重新审视其在患者中的使用标准。此外，还根据疾病的病理生理学评估了联合治疗的必要性。
对于所有法布里病患者，必须评估酶替代疗法、抗蛋白尿药物、他汀类药物和阿司匹林联合使用作为初始治疗的效果。
