Ngu Lock-Hock, Ong Peitee Winnie, Leong Huey Yin, Chew Hui Bein
Genetics Department, Hospital Kuala Lumpur, Malaysia.
Mol Genet Metab Rep. 2017 May 11;12:28-32. doi: 10.1016/j.ymgmr.2017.05.002. eCollection 2017 Sep.
Mucopolysaccharidosis (MPS) II or Hunter syndrome is a chronic, progressive, multi-systemic illness associated with significant morbidity and early mortality. Available evidence in Asian populations shows that Hunter syndrome has a mean age of onset of 2 to 5 years and a life expectancy of 13 years in more severely affected individuals, with respiratory failure reported as the leading cause of death. Enzyme replacement therapy (ERT) with idursulfase (Elaprase, Shire Pharmaceuticals) and idursulfase beta (Hunterase, Green Cross Corp) are the only approved treatment for patients with MPS II. While these agents have the same amino acids, they have different glycosylation patterns because they are produced in different cell lines via different manufacturing processes. In previous studies, the beneficial effects of idursulfase beta have been confirmed in patients up to 35 years of age, without serious treatment-related safety concerns. The major drawbacks associated with ERT include the potential development of serious infusion-related anaphylactic reactions and up to 50% of treated patients develop anti-IDS antibodies. Here we report the case of a 13-year-old Malaysian patient with attenuated MPS II who developed troublesome infusion-associated reactions while receiving idursulfase treatment but tolerated and responded favorably to idursulfase beta.
黏多糖贮积症II型（MPS II）或亨特综合征是一种慢性、进行性、多系统疾病，伴有严重的发病率和早期死亡率。亚洲人群的现有证据表明，亨特综合征的平均发病年龄为2至5岁，病情较重的患者预期寿命为13岁，据报告呼吸衰竭是主要死因。用艾度硫酸酯酶（爱而赞，夏尔制药公司）和艾度硫酸酯酶β（亨特酶，绿十字公司）进行酶替代疗法（ERT）是唯一被批准用于治疗MPS II患者的方法。虽然这些药物具有相同的氨基酸，但它们的糖基化模式不同，因为它们是通过不同的生产工艺在不同的细胞系中产生的。在先前的研究中，艾度硫酸酯酶β对35岁以下患者的有益效果已得到证实，且没有严重的治疗相关安全问题。与ERT相关的主要缺点包括可能发生严重的输液相关过敏反应，高达50%的接受治疗的患者会产生抗IDS抗体。在此，我们报告一例13岁马来西亚MPS II轻症患者的病例，该患者在接受艾度硫酸酯酶治疗时出现了麻烦的输液相关反应，但对艾度硫酸酯酶β耐受且反应良好。
