Ripeau Diego, Amartino Hernán, Cedrolla Martín, Urtiaga Luis, Urdaneta Bella, Cano Marilis, Valdez Rita, Antongiovanni Norberto, Masllorens Francisca
Centro de Estudio de Enfermedades Lisosomales, Hospital Nacional Prof. Dr. Alejandro Posadas, Haedo, Argentina.
Fundación Investigar, Buenos Aires, Argentina.
Medicina (B Aires). 2017;77(3):173-179.
There are currently two available enzyme replacement therapies for Fabry disease and little information regarding efficacy and safety of switching therapies. Between 2009 and 2012 there was a worldwide shortage of agalsidase beta and patients on that enzyme were switched to agalsidase alfa. This retrospective observational study assessed a 2-year period of efficacy and safety in a population of Fabry patients, in Argentina (30 patients) and Venezuela (3 patients), who switched therapies from algasidase beta to agalsidase alfa. Thirty-three patients completed 24-months follow-up after the switch (age 32.4 ± 2.0, range 10.0-55.9 years; male: female 23:10). Measures of renal function such as estimated glomerular filtration rate remained almost unchanged in 31 patients without end stage renal disease over the 2 years after switching and urine protein excretion continued stable. Cardiac functional parameters: left ventricular mass index, interventricular septum, left ventricular posterior wall showed no significant change from baseline in the 33 patients. Quality of life, pain and disease severity scores were mostly unchanged after 24-months and agalsidase alfa was generally well tolerated. Our findings showed there is no significant change in the efficacy measured through the renal or cardiac function, quality of life, pain, disease severity scoring and safety for at least 2 years after switching from agalsidase beta to agalsidase alfa.
目前有两种针对法布里病的酶替代疗法，而关于换药治疗的疗效和安全性的信息很少。在2009年至2012年期间，全球范围内出现了β-半乳糖苷酶短缺的情况，使用该酶治疗的患者转而使用α-半乳糖苷酶。这项回顾性观察研究评估了阿根廷（30例患者）和委内瑞拉（3例患者）的一组从β-半乳糖苷酶转换为α-半乳糖苷酶治疗的法布里病患者两年的疗效和安全性。33例患者在换药后完成了24个月的随访（年龄32.4±2.0岁，范围10.0 - 55.9岁；男性：女性为23:10）。在换药后的两年里，31例没有终末期肾病的患者的肾功能指标如估计肾小球滤过率几乎没有变化，尿蛋白排泄持续稳定。心脏功能参数：左心室质量指数、室间隔、左心室后壁在33例患者中与基线相比无显著变化。24个月后生活质量、疼痛和疾病严重程度评分大多没有变化，α-半乳糖苷酶总体耐受性良好。我们的研究结果表明，从β-半乳糖苷酶转换为α-半乳糖苷酶后，至少在两年内，通过肾功能或心脏功能、生活质量、疼痛、疾病严重程度评分所衡量的疗效以及安全性均无显著变化。
