BACKGROUND:Fabry disease is an X-linked genetic disorder resulting in the accumulation of glycosphingolipids in various organs, leading to exercise intolerance and early mortality. Enzyme replacement therapy (ERT) has recently been approved for use in Fabry patients. GOALS OF STUDY: To assess baseline cardiopulmonary exercise characteristics in both invasive and noninvasive tests and to study the impact of ERT on exercise. METHODS:A total of 15 patients with Fabry disease underwent baseline cardiopulmonary exercise tests. Six patients were randomized 2:1 to receive either ERT or placebo. We performed serial cardiopulmonary exercise tests at baseline and every 3 months over a period of at least 18 months. The baseline test was compared to the last two exercise tests for each patient. RESULTS:Mean age was 32 years. Mean VO2max was 1.680 +/- 0.67 L/min and increased by 0.459 +/- 0.64 L/min in the patients receiving ERT. Mean VO2max was 1.462 +/- 0.25 L/min and decreased by 0.116 +/- 0.44 L/min in patients on placebo. Mean oxygen pulse (VO2/HR) increased by 1.71 with enzyme, but increased only 0.025 in patients taking placebo. Estimated stroke volume (SV) increased by 10 ml in patients on ERT. CONCLUSIONS:In this small cohort, exercise tolerance increased in patients receiving enzyme replacement therapy. Cardiopulmonary exercise testing is a useful test in measuring the response to therapy in Fabry disease patients.

译文

背景:法布里病是一种X连锁遗传病,导致糖鞘脂在各个器官中积聚,导致运动不耐症和早期死亡。酶替代疗法(ERT)最近已被批准用于法布里(Fabry)患者。研究的目标:在有创和无创测试中评估基线心肺运动特征,并研究ERT对运动的影响。
方法:总共15例法布里病患者接受了基线心肺运动试验。六名患者按2:1的比例随机分配接受ERT或安慰剂。我们在基线以及至少18个月内每3个月进行了一系列心肺运动试验。将基线测试与每位患者的最后两次运动测试进行比较。
结果:平均年龄为32岁。接受ERT的患者的平均VO2max为1.680 /-0.67 L / min,并增加0.459 /-0.64 L / min。服用安慰剂的患者的平均VO2max为1.462 /-0.25 L / min,降低了0.116 /-0.44 L / min。酶的平均氧脉冲(VO2 / HR)增加1.71,但服用安慰剂的患者仅增加0.025。 ERT患者的估计卒中量(SV)增加了10 ml。
结论:在这个小队列中,接受酶替代疗法的患者的运动耐量增加。心肺运动测试是测量法布里病患者对治疗反应的有用测试。

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