del Toro-Riera M
Hospital Universitario Vall d'Hebron, 08035 Barcelona, Espana.
Rev Neurol. 2007 Feb 19;44 Suppl 1:S13-7.
Hunter syndrome, or mucopolysaccharidosis type II, is an inherited disease linked to the X chromosome that is caused by a deficit of the enzyme iduronate-2-sulfatase and its main symptoms affect the bones, neurological system and the viscera. In order to further our knowledge of its natural history, a registry containing data about patients' clinical histories was compiled. The purpose of this review is to describe how the registry works and to present the initial data concerning Spanish patients with Hunter syndrome included in it.
The Hunter Outcome Survey (HOS) registry is a multi-centre, world-wide, observational, long-term follow-up study that is open to all patients diagnosed with the disease. The registry includes clinical data and information from the complementary examinations that are commonly performed as usual practice while attending these patients. Its main aims are to describe the population of patients with the disease, to further our knowledge of its natural history, to keep a check on the safety and effectiveness of enzyme replacement therapy in patients who are candidates for such treatment and to create a database that makes it possible to draw up a set of guidelines for clinical practice.
Specific registries of low-prevalence diseases, such as the HOS registry for patients with Hunter syndrome, are important to improve the follow-up of patients and to determine the impact of new treatments. The Spanish HOS registry is an important step forward in furthering our knowledge of the current situation of the patients registered throughout the country.
亨特综合征，即黏多糖贮积症II型，是一种与X染色体相关的遗传性疾病，由艾杜糖醛酸-2-硫酸酯酶缺乏引起，其主要症状影响骨骼、神经系统和内脏。为了进一步了解其自然病史，编制了一个包含患者临床病史数据的登记册。本综述的目的是描述该登记册的运作方式，并展示其中纳入的西班牙亨特综合征患者的初始数据。
亨特综合征结局调查（HOS）登记册是一项多中心、全球性、观察性的长期随访研究，对所有诊断为此病的患者开放。该登记册包括临床数据以及在诊治这些患者时常规进行的辅助检查信息。其主要目的是描述该病患者群体，进一步了解其自然病史，监测酶替代疗法对适合此类治疗患者的安全性和有效性，并创建一个数据库，以便制定一套临床实践指南。
特定的罕见病登记册，如针对亨特综合征患者的HOS登记册，对于改善患者随访和确定新疗法的影响非常重要。西班牙HOS登记册是在进一步了解全国登记患者现状方面向前迈出的重要一步。
