酶替代疗法结合呼吸肌训练可改善晚发型庞贝病患者的肌肉力量。
Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease.
作者信息
Jevnikar Mitja, Kodric Metka, Cantarutti Fabiana, Cifaldi Rossella, Longo Cinzia, Della Porta Rossana, Bembi Bruno, Confalonieri Marco
机构信息
Department of Pneumology, University Hospital of Cattinara, Trieste, Italy.
Rare Diseases Regional Centre, University Hospital "S. Maria della Misericordia", Udine, Italy.
出版信息
Mol Genet Metab Rep. 2015 Oct 29;5:67-71. doi: 10.1016/j.ymgmr.2015.09.007. eCollection 2015 Dec.
BACKGROUND
Pompe disease is an autosomal recessive metabolic disorder caused by the deficiency of the lysosomal enzyme acid α-glucosidase. This deficiency leads to glycogen accumulation in the lysosomes of muscle tissue causing progressive muscular weakness particularly of the respiratory system. Enzyme replacement therapy (ERT) has demonstrated efficacy in slowing down disease progression in infants. Despite the large number of studies describing the effects of physical training in juvenile and adult late onset Pompe disease (LOPD). There are very few reports that analyze the benefits of respiratory muscle rehabilitation or training.
METHODS
The effectiveness of respiratory muscle training was investigated using a specific appliance with adjustable resistance (Threshold). The primary endpoint was effect on respiratory muscular strength by measurements of MIP and MEP. Eight late-onset Pompe patients (aged 13 to 58 years; 4 female, 4 male) with respiratory muscle deficiency on functional respiratory tests were studied. All patients received ERT at the dosage of 20 mg/kg/every 2 weeks and underwent training with Threshold at specified pressures for 24 months.
RESULTS
A significant increase in MIP was observed during the follow-up of 24 month: 39.6 cm HO (+ 25.0%) at month 3; 39.5 cm HO (+ 24.9%) at month 6; 39.1 cm HO (+ 23.7%) at month 9; 37.3 cm HO (+ 18.2%) at month 12; and 37.3 cm HO (+ 17.8%) at month 24. Median MEP values also showed a significant increase during the first 9 months: 29.8 cm HO, (+ 14.3%) at month 3; 31.0 cm HO (+ 18.6) at month 6; and 29.5 cm HO (+ 12.9) at month 9. MEP was then shown to be decreased at months 12 and 24; median MEP was 27.2 cm HO (+ 4.3%) at 12 months and 26.6 cm HO (+ 1.9%) at 24 months. The FVC remain stable throughout the study.
CONCLUSION
An increase in respiratory muscular strength was demonstrated with Threshold training when used in combination with ERT.
背景
庞贝病是一种常染色体隐性遗传代谢紊乱疾病，由溶酶体酶酸性α-葡萄糖苷酶缺乏引起。这种缺乏导致糖原在肌肉组织的溶酶体中蓄积，引起进行性肌肉无力，尤其是呼吸系统。酶替代疗法（ERT）已证明对减缓婴儿期疾病进展有效。尽管有大量研究描述了体育锻炼对青少年和成人晚发型庞贝病（LOPD）的影响，但很少有报告分析呼吸肌康复或训练的益处。
方法
使用一种具有可调阻力的特定器械（Threshold）研究呼吸肌训练的有效性。主要终点是通过测量最大吸气压力（MIP）和最大呼气压力（MEP）对呼吸肌力量的影响。对8例在功能性呼吸测试中存在呼吸肌功能不足的晚发型庞贝病患者（年龄13至58岁；4名女性，4名男性）进行了研究。所有患者接受每2周20mg/kg剂量的ERT，并在特定压力下使用Threshold进行24个月的训练。
结果
在24个月的随访期间观察到MIP显著增加：第3个月为39.6cmHO（增加25.0%）；第6个月为39.5cmHO（增加24.9%）；第9个月为39.1cmHO（增加23.7%）；第12个月为37.3cmHO（增加18.2%）；第24个月为37.3cmHO（增加17.8%）。MEP中位数在最初9个月也显示出显著增加：第3个月为29.8cmHO（增加14.3%）；第6个月为31.0cmHO（增加18.6）；第9个月为29.5cmHO（增加12.9）。然后在第12个月和第24个月MEP显示下降；第12个月MEP中位数为27.2cmHO（增加4.3%），第24个月为26.6cmHO（增加1.9%）。在整个研究过程中，用力肺活量（FVC）保持稳定。
结论
当与ERT联合使用时，Threshold训练可使呼吸肌力量增加。
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