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黏多糖贮积症 I 型注册登记处:用于监测黏多糖贮积症 I 型患者的全球疾病注册登记处的设计、方法及早期发现。

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

作者信息

Pastores Gregory M, Arn Pamela, Beck Michael, Clarke Joe T R, Guffon Nathalie, Kaplan Paige, Muenzer Joseph, Norato Denise Y J, Shapiro Elsa, Thomas Janet, Viskochil David, Wraith J Edmond

机构信息

NYU School of Medicine , New York, NY 10016, USA.

出版信息

Mol Genet Metab. 2007 May;91(1):37-47. doi: 10.1016/j.ymgme.2007.01.011. Epub 2007 Mar 2.

Abstract

A global, observational disease registry has been established to characterize the course of disease and track clinical outcomes in patients with Mucopolysaccharidosis Type I (MPS I), a rare and treatable lysosomal storage disorder. This report outlines procedures for data collection and presents the recommended minimum schedule of assessments that comprise the disease-specific clinical and laboratory parameters that are tracked in the database. Aggregate data are summarized for the first 302 patients enrolled, representing entries from 24 countries. The median current age of the patients is 9.0 years (range: 0.4-64.8). Syndrome diagnoses include 47% Hurler (severe form), 25% Hurler-Scheie (attenuated form with an intermediate phenotype), 13% Scheie (most attenuated form), and 15% unknown. Younger ages at symptom onset and disease diagnosis are associated with the severe Hurler syndrome, but there is overlap among syndromes. Diagnosis was delayed by years to decades in several patients with Hurler-Scheie and Scheie syndromes. Patients with symptom onset before age 5 are more likely to have a gibbus, cognitive impairment, and pneumonia, whereas patients with symptom onset above age 5 are more likely to have carpal tunnel syndrome, myelopathy, and glaucoma. Cardiac valve abnormalities, joint contractures, corneal clouding, and hernia are reported by over 70% of patients regardless of the age of symptom onset. Approximately 80% of the patients have received enzyme replacement therapy, hematopoietic stem cell transplantation, or both. Overall, the MPS I Registry database contains a broad sample of the global patient population, providing a potentially useful tool for expanding knowledge of MPS I and facilitating evidence-based decisions about the optimal means of monitoring and treating affected individuals.

摘要

已建立一个全球性的观察性疾病登记处,以描述黏多糖贮积症I型(MPS I)患者的疾病进程并跟踪其临床结局。MPS I是一种罕见的可治疗的溶酶体贮积症。本报告概述了数据收集程序,并列出了建议的最低评估时间表,其中包括数据库中跟踪的特定疾病临床和实验室参数。对首批入组的302例患者的汇总数据进行了总结,这些患者来自24个国家。患者的当前年龄中位数为9.0岁(范围:0.4 - 64.8岁)。综合征诊断包括47%的Hurler(重型)、25%的Hurler-Scheie(中间型的轻型)、13%的Scheie(最轻型)和15%不明类型。症状发作和疾病诊断时年龄较小与重型Hurler综合征相关,但各综合征之间存在重叠。几名Hurler-Scheie和Scheie综合征患者的诊断延迟了数年至数十年。症状发作在5岁之前的患者更易出现脊柱后凸、认知障碍和肺炎,而症状发作在5岁以上的患者更易出现腕管综合征、脊髓病和青光眼。无论症状发作年龄如何,超过70%的患者报告有心脏瓣膜异常、关节挛缩、角膜混浊和疝气。约80%的患者接受了酶替代疗法、造血干细胞移植或两者皆有。总体而言,MPS I登记处数据库包含了全球患者群体的广泛样本,为扩展对MPS I的认识以及促进关于监测和治疗受影响个体的最佳方法的循证决策提供了一个潜在有用的工具。

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