Department of Metabolic Medicine, Royal Children's Hospital, Hertson, QLD, Australia.
Clin Genet. 2010 May;77(5):492-8. doi: 10.1111/j.1399-0004.2009.01324.x. Epub 2009 Nov 23.
Mucopolysaccharidosis type VI (MPS VI) is a progressive, multisystem disorder caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulphatase (ASB). Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals greater than 6 years of age. This case control study of affected siblings assessed the safety, efficacy and benefits of ERT in children less than 5 years of age. Siblings, aged 8 weeks and 3.6 years, were treated weekly with 1 mg/kg recombinant human N-acetylgalactosamine-4-sulphatase (rhASB) with an end-point of 3.6 years. Clinical and biochemical parameters were monitored to assess the benefits of ERT. The treatment was well tolerated by both siblings. In the younger sibling, ERT was associated with the absence of the development of scoliosis and preserved joint movement, cardiac valves and facial morphology. The older sibling had a marked improvement in joint mobility and cardiac valve pathology and scoliosis slowed or stabilized. Corneal clouding and progressive skeletal changes were observed despite treatment. This study demonstrated a clear benefit of early initiation of ERT to slow or prevent the development of significant pathological changes of MPS VI. These results indicate that the earlier ERT is started, the greater the response.
黏多糖贮积症 VI 型（MPS VI）是一种进行性多系统疾病，由溶酶体酶 N-乙酰半乳糖胺-4-硫酸酯酶（ASB）缺乏引起。酶替代疗法（ERT）已被证明对 6 岁以上的受影响个体具有临床益处。本项针对受影响同胞的病例对照研究评估了小于 5 岁儿童接受 ERT 的安全性、疗效和益处。8 周大和 3.6 岁的同胞每周接受 1mg/kg 重组人 N-乙酰半乳糖胺-4-硫酸酯酶（rhASB）治疗，终点为 3.6 年。监测临床和生化参数以评估 ERT 的益处。两种同胞均能很好地耐受治疗。在年龄较小的同胞中，ERT 与脊柱侧凸的发展和关节运动、心脏瓣膜和面部形态的保留无关。年龄较大的同胞的关节活动度和心脏瓣膜病变明显改善，脊柱侧凸减缓或稳定。尽管进行了治疗，但仍观察到角膜混浊和进行性骨骼变化。本研究表明，早期开始 ERT 可明显减缓或预防 MPS VI 的显著病理变化的发展。这些结果表明，ERT 越早开始，效果越好。
