Beck Michael, Arn Pamela, Giugliani Roberto, Muenzer Joseph, Okuyama Torayuki, Taylor John, Fallet Shari
Children's Hospital, University of Mainz, Mainz, Germany.
The Nemours Children's Clinic, Jacksonville, Florida, USA.
Genet Med. 2014 Oct;16(10):759-65. doi: 10.1038/gim.2014.25. Epub 2014 Mar 27.
In this study, we aimed to describe the natural history of mucopolysaccharidosis I.
Data from 1,046 patients who enrolled in the MPS I Registry as of August 2013 were available for descriptive analysis. Only data from untreated patients and data prior to treatment for patients who received treatment were considered. Age at symptom onset, diagnosis, and treatment initiation were examined by geographic region and phenotype (from most to least severe: Hurler, Hurler-Scheie, and Scheie). For each symptom, frequency and age at onset were examined.
Natural history data were available for 987 patients. Most patients were from Europe (45.5%), followed by North America (34.8%), Latin America (17.3%), and Asia Pacific (2.4%). Phenotype distribution was 60.9% for Hurler, 23.0% for Hurler-Scheie, and 12.9% for Scheie (3.2% undetermined) syndromes. Median age at symptom onset for Hurler, Hurler-Scheie, and Scheie syndromes was 6 months, 1.5 years, and 5.3 years, respectively; median age at treatment initiation was 1.5 years, 8.0 years, and 16.9 years, respectively. Coarse facial features and corneal clouding were among the most common symptoms in all three phenotypes.
A delay between symptom onset and treatment exists, especially in patients with attenuated mucopolysaccharidosis I. A better understanding of disease manifestations may help facilitate prompt diagnosis and treatment and improve patient outcomes.
在本研究中，我们旨在描述黏多糖贮积症I型的自然病史。
截至2013年8月纳入黏多糖贮积症I型注册登记处的1046例患者的数据可用于描述性分析。仅考虑未治疗患者的数据以及接受治疗患者治疗前的数据。按地理区域和表型（从最严重到最轻微：Hurler综合征、Hurler-Scheie综合征和Scheie综合征）检查症状出现、诊断和开始治疗时的年龄。对于每种症状，检查其发生频率和出现年龄。
987例患者有自然病史数据。大多数患者来自欧洲（45.5%），其次是北美（34.8%）、拉丁美洲（17.3%）和亚太地区（2.4%）。Hurler综合征、Hurler-Scheie综合征和Scheie综合征的表型分布分别为60.9%、23.0%和12.9%（3.2%未确定）。Hurler综合征、Hurler-Scheie综合征和Scheie综合征症状出现的中位年龄分别为6个月、1.5岁和5.3岁；开始治疗的中位年龄分别为1.5岁、8.0岁和16.9岁。粗糙面容和角膜混浊是所有三种表型中最常见的症状。
症状出现与治疗之间存在延迟，尤其是在黏多糖贮积症I型症状较轻的患者中。更好地了解疾病表现可能有助于促进及时诊断和治疗并改善患者预后。
