TY - T1的长远利益酶替代疗法在疾病筛JF -神经学乔-神经病学SP - 2365 LP - 2373 - 10.1212 / WNL。首页0000000000004711六世- 89 - 23盟以斯帖Kuperus AU -米歇尔·e·Kruijshaar盟Stephan c.a文斯AU - Juna m . de Vries盟Marein m . Favejee AU -简·c·范德Meijden盟Dimitris Rizopoulos盟a -以斯帖Brusse盟Pieter van多尔恩AU - Ans t·范德Ploeg盟Nadine A.M.E. van der发现Y1 - 2017/12/05 UR - //www.ez-admanager.com/content/89/23/2365.abstract N2 -目的:确定酶替代疗法的效果(ERT) 5年后和识别预测有利的反应,因为几乎首页没有什么可用的数据在筛的长期疗效ERT疾病。方法:我们包括102年全国成人筛疾病患者,前瞻性群组研究。我们评估肌肉力量(人工肌肉测试和医学研究委员会(MRC)评分,手持测力法[大桶]),肌肉功能(6分钟步行试验、快速运动机能试验)、日常生活活动(Rasch-Built Pompe-Specific活动[R-PAct]规模),和肺功能(用力肺活量(FVC)在直立和仰卧的姿势,最大吸气和呼气压力)每隔3到6个月之前和之后的ERT开始。数据分析与线性mixed-effects重复测量模型。结果:平均随访时间为6.1年(范围0.4 - -7.9年),其中5.0年(范围0.2 - -7.3年)期间ERT。对待病人最好肌肉力量(MRC得分总和+ 6.6 (pp);大桶得分总和+ 9.6 pp、p & lt;0.0001),活动水平(R-PAct + 10.8页,p & lt;0.002),肺功能(FVC直立+ 7.3 pp、FVC仰卧位+ 7.6 pp、p & lt;0.0003)比预期为他们治疗疾病。 Walking distance improved (416 vs 376 m at baseline, p = 0.03). The largest increase was seen during the first 2 to 3 years of treatment. Response to treatment was similar between groups regardless of sex, age, or disease duration.Conclusions: Long-term ERT positively affects muscle strength, pulmonary function, and daily life activities in adult patients with Pompe disease, with a peak effect at ≈2 to 3 years of treatment.Classification of evidence: This study provides Class IV evidence that for patients with Pompe disease, long-term ERT positively affects muscle strength, pulmonary function, and daily life activities.ERT=enzyme replacement therapy; FVC=forced vital capacity; HHD=handheld dynamometry; IAR=infusion-associated reaction; MEP=maximum expiratory pressure; MIP=maximum inspiratory pressure; pp=percentage points; QMFT=Quick Motor Function Test; R-PAct=Rasch-Built Pompe-Specific Activity; 6MWT=6-minute walk test ER -