Infantile Pompe disease on ERTuUpdate on clinical presentation, musculoskeletal management, and exercise considerations
Infantile Pompe disease on ERTuUpdate on clinical presentation, musculoskeletal management, and exercise considerations
复制标题
DOI：
10.1002/ajmc.31321
复制
发表时间：
2012-02-15
影响因子：
3.1
通讯作者：
Kishnani, Priya S.
中科院分区：
文献类型：
--
作者：
Case, Laura E.;Beckemeyer, Alexandra A.;Kishnani, Priya S.
使用阿糖苷酶 α 的酶替代疗法 (ERT) 于 2006 年获得 FDA 批准，扩大了患有庞贝病（II 型糖原贮积病、GSDII 或酸性麦芽糖酶缺乏症）患者的可能性。患有婴儿庞贝氏症的儿童能够存活到婴儿期以后，其中一些儿童达到了前所未有的独立行走和功能水平。患有晚发性庞贝氏症的个体正在经历运动和呼吸的改善和/或稳定，并且损伤进展较慢。对于接受 ERT 治疗的婴儿庞贝病患者，正在出现一种新的表型。这种新表型似乎与晚发型表型不同，而不是从婴儿期到晚发型表型的转变，而 ERT 症状的简单减轻可能是预期的。关于这种新表型中明显的肌无力分布的病因学的问题出现了，关于运动和肌肉骨骼管理的问题也越来越多。要找到答案，需要加深对庞贝氏症肌肉病理学、ERT 如何影响肌肉病理学的了解，以及其他临床干预措施的潜在影响和需求。本文回顾了庞贝氏病肌肉受累病理学的现状以及 ERT 对肌肉病理学的潜在变化；采用 ERT 治疗的婴儿庞贝氏病新出现的肌肉骨骼和粗大运动表型；关于庞贝氏病肌肉骨骼管理的最新建议，特别是对于现在存活时间更长但残余无力影响肌肉骨骼系统发育和完整性的儿童；以及运动对接受 ERT 治疗的婴儿庞贝幸存者的潜在影响和作用。 (C) 2012 年 Wiley 期刊公司。
Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disease are surviving beyond infancy, some achieving independent walking and functional levels never before possible. Individuals with late-onset Pompe disease are experiencing motor and respiratory improvement and/or stabilization with slower progression of impairments. A new phenotype is emerging for those with infantile Pompe disease treated with ERT. This new phenotype appears to be distinct from the late-onset phenotype rather than a shift from infantile to late-onset phenotype that might be expected from a simple diminution of symptoms with ERT. Questions arise regarding the etiology of the distinct distribution of weakness in this new phenotype, with increasing questions regarding exercise and musculoskeletal management. Answers require an increased understanding of the muscle pathology in Pompe disease, how that muscle pathology may be impacted by ERT, and the potential impact of, and need for, other clinical interventions. This article reviews the current state of knowledge regarding the pathology of muscle involvement in Pompe disease and the potential change in muscle pathology with ERT; the newly emerging musculoskeletal and gross motor phenotype of infantile Pompe disease treated with ERT; updated recommendations regarding musculoskeletal management in Pompe disease, particularly in children now surviving longer with residual weakness impacting development and integrity of the musculoskeletal system; and the potential impact and role of exercise in infantile Pompe survivors treated with ERT. (C) 2012 Wiley Periodicals, Inc.