Zareba Grazyna
Department of Environmental Medicine, University of Rochester, School of Medicine and Dentistry, Rochester, New York, USA.
Drugs Today (Barc). 2007 Nov;43(11):759-67. doi: 10.1358/dot.2007.43.11.1157619.
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a rare X-linked lysosomal storage disorder caused by the deficiency of enzyme iduronate-2-sulfatase (I2S), which results in accumulation of undegraded dermatan and heparan sulfate in various tissues and organs. Enzyme replacement therapy with Elaprase (idursulfase, a recently approved orphan product) is the first treatment for Hunter syndrome. Results of the randomized, double-blind, placebo-controlled phase II/III clinical trial of idursulfase demonstrated that weekly infusions of idursulfase increase walking distance and improve pulmonary function as well as reduce organ size and urinary glycosaminoglycans (GAGs) excretion in MPS II patients. Idursulfase is generally well tolerated, although infusion reactions do occur. Clinical studies demonstrate that idursulfase may be the first successful symptomatic therapy that can benefit patients with MPS II by addressing the enzymatic defect.
亨特综合征（黏多糖贮积症II型，MPS II）是一种罕见的X连锁溶酶体贮积症，由艾杜糖醛酸-2-硫酸酯酶（I2S）缺乏引起，导致未降解的硫酸皮肤素和硫酸乙酰肝素在各种组织和器官中蓄积。使用Elaprase（艾杜糖硫酸酯酶，一种最近获批的孤儿药）进行酶替代疗法是亨特综合征的首个治疗方法。艾杜糖硫酸酯酶的随机、双盲、安慰剂对照II/III期临床试验结果表明，每周输注艾杜糖硫酸酯酶可增加MPS II患者的步行距离、改善肺功能，并减小器官大小和降低尿糖胺聚糖（GAGs）排泄量。尽管确实会发生输注反应，但艾杜糖硫酸酯酶总体耐受性良好。临床研究表明，艾杜糖硫酸酯酶可能是首个通过解决酶缺陷而使MPS II患者受益的成功对症疗法。
