Division of Rheumatology, Department of Pediatrics, British Columbia's Children's Hospital, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.
Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v19-25. doi: 10.1093/rheumatology/ker397.
The mucopolysaccharidoses (MPSs) are a heterogeneous group of inherited metabolic disorders caused by enzyme deficiencies that lead to progressive lysosomal storage of glycosaminoglycans. Musculoskeletal manifestations are common across all forms of MPS and are often apparent early in the disease course. Diagnostic delays occur frequently in these patients, especially those with more attenuated forms of disease. Treatments for many types of MPS are now available; however, they are most effective if started early before the development of irreversible damage. Some manifestations such as stiffness and joint contractures may mimic other conditions such as inflammatory arthritis, which may cause further delays. Rheumatologists and other specialists should be aware of the musculoskeletal manifestations of MPS so that diagnostic delays can be avoided and appropriate management initiated.
黏多糖贮积症（MPS）是一组由酶缺乏引起的遗传性代谢紊乱，导致糖胺聚糖在溶酶体中进行性贮积。MPS 所有类型都有骨骼肌肉表现，且通常在疾病早期就表现明显。这些患者常出现诊断延迟，尤其是疾病表现较为轻微的患者。目前已有多种 MPS 的治疗方法，但如果在不可逆损伤发生前尽早开始治疗，效果最佳。某些表现，如僵硬和关节挛缩，可能类似于其他疾病，如炎性关节炎，这可能会导致进一步的延迟。风湿病学家和其他专家应了解 MPS 的骨骼肌肉表现，以避免诊断延迟并开始进行适当的治疗。
