Politei J, Schenone A B, Cabrera G, Heguilen R, Szlago M
Laboratorio Neuroquímica Dr Chamoles (FESEN), Buenos Aires, Argentina.
Cardiology Department, Del Viso Medical Center, Buenos Aires, Argentina.
Clin Genet. 2016 Jan;89(1):88-92. doi: 10.1111/cge.12590. Epub 2015 Apr 20.
We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (ERT). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and cerebrovascular functioning. Pain scale showed improvement in all male cases treated with agalsidasa beta. A mild improvement was detected in agalsidasa alfa-treated patients after 1 year with posterior increase. During the agalsidase beta shortage, two male patients were switched to agalsidasa alfa, after 1 year both cases presented an increase in scale values. Renal evolution showed a tendency toward a decrease in proteinuria in patients using agalsidase beta and worsening with agalsidase alfa. We found improvement in two females using agalsidase beta and no changes in the other cases regarding cardiac functioning. Brain magnetic resonance imaging (MRI) showed increase of white matter lesions in four patients. Improvement and stabilization in neuropathic pain, renal and cardiac functioning and brain MRI were found mainly in patients treated with agalsidase beta. Following the reported recommendations on reintroduction of agalsidase beta after the enzyme shortage, we decided to switch all patients to agalsidase beta.
我们描述了法布里病患者中具有相同基因突变者的多学科评估结果，以及使用不同获批的酶替代疗法（ERT）后的治疗效果。我们测量了基线数据以及神经性疼痛评估、肾脏、心脏和脑血管功能的系列结果。疼痛量表显示，所有接受β-半乳糖苷酶治疗的男性患者的疼痛均有所改善。接受α-半乳糖苷酶治疗的患者在1年后有轻度改善，随后有所增加。在β-半乳糖苷酶短缺期间，两名男性患者改用α-半乳糖苷酶，1年后这两名患者的量表值均有所增加。肾脏病情进展显示，使用β-半乳糖苷酶的患者蛋白尿有减少趋势，而使用α-半乳糖苷酶的患者蛋白尿则恶化。我们发现，两名使用β-半乳糖苷酶的女性患者心脏功能有所改善，其他患者则无变化。脑部磁共振成像（MRI）显示，4名患者的白质病变增加。主要在接受β-半乳糖苷酶治疗的患者中发现神经性疼痛、肾脏和心脏功能以及脑部MRI有改善和稳定情况。根据酶短缺后重新引入β-半乳糖苷酶的报告建议，我们决定将所有患者改用β-半乳糖苷酶。
