Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Neuromuscul Disord. 2010 Dec;20(12):775-82. doi: 10.1016/j.nmd.2010.07.277.
Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-glucosidase. Treatment with recombinant human α-glucosidase recently received marketing approval based on prolonged survival of affected infants. The current open-label study was performed to evaluate the response in older children (age 5.9-15.2 years). The five patients that we studied had limb-girdle muscle weakness and three of them also had decreased pulmonary function in upright and supine position. They received 20-mg/kg recombinant human α-glucosidase every two weeks over a 3-year period. No infusion-associated reactions were observed. Pulmonary function remained stable (n = 4) or improved slightly (n = 1). Muscle strength increased. Only one patient approached the normal range. Patients obtained higher scores on the Quick Motor Function Test. None of the patients deteriorated. Follow-up data of two unmatched historical cohorts of adults and children with Pompe disease were used for comparison. They showed an average decline in pulmonary function of 1.6% and 5% per year. Data on muscle strength and function of untreated children were not available. Further studies are required.
庞贝病是一种罕见的神经肌肉疾病，由酸性α-葡萄糖苷酶缺乏引起。最近，基于对受影响婴儿的生存时间延长，重组人α-葡萄糖苷酶的治疗获得了市场批准。目前进行的开放性研究旨在评估对年龄较大的儿童（5.9-15.2 岁）的反应。我们研究的五名患者有肢体带肌无力，其中三人在直立和仰卧位时肺功能也下降。他们在 3 年内每两周接受 20 毫克/公斤重组人α-葡萄糖苷酶治疗。未观察到输注相关反应。肺功能保持稳定（n=4）或略有改善（n=1）。肌肉力量增加。只有一名患者接近正常范围。患者在快速运动功能测试中获得了更高的分数。没有患者病情恶化。使用两个未经匹配的庞贝病成人和儿童历史队列的随访数据进行了比较。他们的肺功能平均每年下降 1.6%和 5%。未接受治疗的儿童的肌肉力量和功能数据不可用。需要进一步研究。
