Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v13-8. doi: 10.1093/rheumatology/ker395.
The mucopolysaccharidoses (MPSs) are a series of rare genetic disorders in which progressive bone and joint disease represents a key source of morbidity for patients. The recent introduction of enzyme replacement therapy for many of the MPSs has led to a need for increased physician awareness of these rare conditions in order to ensure that treatment is initiated at a time that leads to optimal benefit for patients. In addition, the current experiences of the clinical responsiveness of patient's symptoms to enzyme replacement approaches have also fuelled an interest in the development of alternative and adjunctive therapeutic approaches directed particularly to the rheumatological aspects of disease. Understanding the underlying pathogenesis of the MPSs is a key element for advancements in both of these areas. This review highlights the current knowledge underlying the pathophysiology of disease symptoms in the MPSs and underscores the importance and role of pathogenic cascades.
黏多糖贮积症（MPSs）是一系列罕见的遗传性疾病，其中进行性骨骼和关节疾病是患者发病的主要原因。最近，许多 MPSs 都采用了酶替代疗法，这就需要医生提高对这些罕见疾病的认识，以便在最佳治疗时机开始治疗，从而使患者受益最大化。此外，目前人们对患者症状对酶替代治疗反应的临床效果也很感兴趣，这促使人们关注针对疾病的风湿学方面的替代和辅助治疗方法的开发。了解 MPSs 的发病机制是这两个领域取得进展的关键因素。这篇综述强调了当前对 MPSs 疾病症状的病理生理学基础的认识，并强调了发病级联的重要性和作用。
