Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v4-12. doi: 10.1093/rheumatology/ker394.
The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. The MPSs are heterogeneous, progressive disorders. Patients typically appear normal at birth, but during early childhood they experience the onset of clinical disease, including skeletal, joint, airway and cardiac involvement, hearing and vision impairment, and mental retardation in the severe forms of MPS I, MPS II and MPS VII and all subtypes of MPS III. There are two treatment options for patients with MPS that are directed at the underlying pathophysiology: haematopoietic stem cell transplantation, which is useful for selected patients, and recombinant i.v. enzyme replacement therapy, which is available for MPS I, II and VI. Early diagnosis and treatment can improve patient outcomes and may reduce the disease burden on patients and caregivers. As skeletal and joint abnormalities are characteristic of many patients with MPS, rheumatologists are positioned to recognize the features of the disease and to facilitate early diagnosis and referral. In this overview, the clinical features of the MPS disorders and a brief review of treatment options will be presented in order to aid the rheumatologist in recognizing the features of these rare genetic disorders.
黏多糖贮积症（MPS）是一组罕见的遗传性溶酶体贮积症，其临床特征为多器官系统异常和预期寿命缩短。MPS 是异质性、进行性疾病。患者通常在出生时看起来正常，但在儿童早期会出现临床疾病，包括骨骼、关节、气道和心脏受累、听力和视力损害，以及 MPS I、MPS II 和 MPS VII 以及所有 MPS III 亚型的严重形式的智力障碍。MPS 患者有两种针对潜在病理生理学的治疗选择：造血干细胞移植，对某些患者有用，以及重组静脉内酶替代疗法，可用于 MPS I、II 和 VI。早期诊断和治疗可以改善患者的预后，并可能减轻患者和护理人员的疾病负担。由于骨骼和关节异常是许多 MPS 患者的特征，因此风湿病学家能够识别出这种疾病的特征，并促进早期诊断和转诊。在这篇综述中，将介绍 MPS 疾病的临床特征和简要的治疗选择，以帮助风湿病学家识别这些罕见的遗传性疾病的特征。
