Fukuda Tokiko, Sugie Hideo
Pediatrics, Hamamatsu Medical University.
Brain Nerve. 2015 Sep;67(9):1091-8. doi: 10.11477/mf.1416200265.
The long-term efficacy of enzyme replacement therapy (ERT) in patients with Pompe disease has been unraveled. Cardiac muscle responds well to ERT, whereas motor and respiratory functions do not. The screening of newborns, which enables the early initiation of ERT, has improved outcomes of infantile Pompe patients. Myopathies still exist even in patients in whom ERT is initiated early, and have become recognized as an emerging new phenotype of IP on ERT. In addition, this shows the limitation of currently available ERT. It is expected that the development of therapy will improve the outcome of Pompe disease.
庞贝病患者酶替代疗法(ERT)的长期疗效已被阐明。心肌对ERT反应良好,而运动和呼吸功能则不然。新生儿筛查能够早期开始ERT,改善了婴儿型庞贝病患者的预后。即使在早期开始ERT的患者中,肌病仍然存在,并已被认为是ERT治疗的婴儿型庞贝病的一种新出现的表型。此外,这也显示了现有ERT的局限性。预计治疗方法的发展将改善庞贝病的预后。