Management guidelines for mucopolysaccharidosis VI
Management guidelines for mucopolysaccharidosis VI
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DOI：
10.1542/peds.2006-2184
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发表时间：
2007-08-01
期刊：
影响因子：
8
通讯作者：
Wraith, James E.
中科院分区：
文献类型：
--
作者：
Giugliani, Roberto;Harmatz, Paul;Wraith, James E.
粘多糖沉积症VI（Maroteaux-Lamy综合征）是一种以全身性临床表现和显著的功能损害为特征的溶酶体沉积病。诊断和管理往往是具有挑战性的，因为相当大的变化，症状表现和进展速度。最佳的治疗标准应基于随机对照试验、荟萃分析、系统评价和专家意见的证据。为了支持这一目标，一个国际专家组起草了管理粘多糖病VI患者的综合管理指南。该指南提供了身体系统疾病表现的详细概述，定期评估的建议，以及当前治疗方案的概述。
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controlled trials, meta-analyses, systematic reviews, and expert opinion. In support of this goal, comprehensive management guidelines have been drafted by an international group of experts in the management of patients with mucopolysaccharidosis VI. The guidelines provide a detailed outline of disease manifestations by body system, recommendations for regular assessments, and an overview of current treatment options.