Wraith J Edmond, Beck Michael, Giugliani Roberto, Clarke Joe, Martin Rick, Muenzer Joseph
From the 1Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom.
Genet Med. 2008 Jul;10(7):508-16. doi: 10.1097/gim.0b013e31817701e6.
Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiology of Hunter syndrome. The Hunter Outcome Survey (HOS) was established to better describe the natural history of this disorder and to evaluate the long-term effect of enzyme replacement therapy.
HOS is an international, multicenter, long-term observational survey that will collect data on participating patients with a confirmed diagnosis of Hunter syndrome. Data will be collected during regular physician examinations and entered into an electronic database. Examples of observations include vital signs, laboratory values, signs and symptoms of organ involvement, and the results of selected functional tests (e.g., audiometry, echocardiogram, joint mobility, etc.).
As of May 15, 2007, 263 patients from 16 countries have enrolled in HOS; 24% of these patients were currently being treated with enzyme replacement therapy. The median age at enrollment was 12.2 years. The median age of onset of symptoms and diagnosis of Hunter syndrome were 1.5 and 3.5 years, respectively. Otitis media and abdominal hernia were the earliest presenting symptoms. Facial dysmorphism and hepatosplenomegaly were demonstrated by 95% and 89% of patients, respectively.
HOS will be a valuable resource for enhancing the understanding of Hunter syndrome and will provide important information about the natural history of the disease and the role of enzyme replacement therapy in its treatment. Patients and their physicians should be encouraged to participate.
亨特综合征（黏多糖贮积症II型）是一种罕见的X连锁糖胺聚糖代谢障碍疾病。它由溶酶体酶艾杜糖醛酸-2-硫酸酯酶缺乏引起，在受影响的患者中，糖胺聚糖在各种组织和器官的溶酶体中蓄积，导致亨特综合征的病理生理过程。建立亨特综合征结局调查（HOS）是为了更好地描述该疾病的自然史，并评估酶替代疗法的长期效果。
HOS是一项国际多中心长期观察性调查，将收集确诊为亨特综合征的参与患者的数据。数据将在常规医生检查时收集并录入电子数据库。观察项目包括生命体征、实验室检查值、器官受累的体征和症状，以及选定功能测试（如听力测定、超声心动图、关节活动度等）的结果。
截至2007年5月15日，来自16个国家的263例患者已纳入HOS；其中24%的患者目前正在接受酶替代疗法治疗。入组时的中位年龄为12.2岁。亨特综合征症状出现和诊断的中位年龄分别为1.5岁和3.5岁。中耳炎和腹疝是最早出现的症状。分别有95%和89%的患者出现面部畸形和肝脾肿大。
HOS将成为增进对亨特综合征理解的宝贵资源，并将提供有关该疾病自然史以及酶替代疗法在其治疗中作用的重要信息。应鼓励患者及其医生参与。
