Illés Zsolt, Várdi Visy Katalin
Pécsi Tudományegyetem, Neurológiai Klinika, Pécs.
Ideggyogy Sz. 2009 Sep 30;62(9-10):299-307.
Pompe's disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. Three international randomized trials examined the clinical efficacy of enzyme replacement therapy (ERT) in infantile and late-onset diseases. ERT reduced the risk of death, respiratory support, invasive ventilation and improved cardiomyopathy. Respiration, muscle function and quality of life were improved in both infantile and late-onset diseases. These randomized and pilot trials also proved the safety of the treatment. At present it is not clear if antibodies induced by ERT result in decreased efficacy. In this review, we also discuss our experiences obtained by the treatment of three patients, and review the spectrum of supportive and experimental treatment strategies.
庞贝氏病是一种由溶酶体α-葡萄糖苷酶缺乏引起的超罕见疾病。目前，它是唯一一种可通过酶替代疗法治疗的遗传性肌肉疾病。三项国际随机试验研究了酶替代疗法（ERT）在婴儿型和晚发型疾病中的临床疗效。ERT降低了死亡风险、呼吸支持需求、有创通气需求，并改善了心肌病。婴儿型和晚发型疾病的呼吸、肌肉功能和生活质量均得到改善。这些随机试验和试点试验也证明了该治疗方法的安全性。目前尚不清楚ERT诱导产生的抗体是否会导致疗效降低。在本综述中，我们还讨论了治疗三名患者的经验，并回顾了支持性和实验性治疗策略的范围。
