Brown F R, Hall C W, Neufeld E F, Munoz L L, Braine H, Andrzejewski S, Camargo E E, Mark S A, Richard J M, Moser H W
Am J Med Genet. 1982 Nov;13(3):309-18. doi: 10.1002/ajmg.1320130314.
The Hunter syndrome (MPS II) is the only mucopolysaccharidosis in which there is appreciable activity of the deficient enzyme in normal plasma. We performed enzyme-replacement treatment by plasma exchange in five Hunter syndrome children. Carefully monitoring the cardiovascular status, we administered monthly single plasma volume exchanges for a 3 to 8 mo period. The results indicate a substantial gain of enzyme activity, persisting with a t50% = 19 +/- 5 hr. The maximal level and persistence of increased enzyme activity did not change after repeated exchanges, suggesting that immune responses were not elicited. Despite this, no demonstrable clinical benefit was apparent when the study group was compared with an age-matched control group of Hunter syndrome patients.
亨特综合征(黏多糖贮积症II型)是唯一一种在正常血浆中缺乏的酶具有明显活性的黏多糖贮积症。我们对5名亨特综合征患儿进行了血浆置换酶替代治疗。在仔细监测心血管状况的同时,我们每月进行一次单倍血浆量置换,持续3至8个月。结果表明酶活性显著增加,半衰期t50% = 19±5小时。重复置换后,酶活性增加的最大水平和持续时间没有变化,这表明没有引发免疫反应。尽管如此,当将研究组与年龄匹配的亨特综合征患者对照组进行比较时,并未显示出明显的临床益处。