Morini Sandra Regina, Steiner Carlos Eduardo, Gerson Lelia Britto Passos
Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, São Paulo, Brazil.
J Pediatr Orthop B. 2010 Jul;19(4):313-7. doi: 10.1097/BPB.0b013e3283317b7a.
Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase. This enzyme is responsible for the catabolism of two different glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate. Lysosomal accumulation of these GAG molecules results in cell, tissue, and organ dysfunction. The skeletal-muscle system involvement is because of essential accumulated GAGs in joints and connective tissue. MPS-II has many clinical features and includes two recognized clinical entities, mild and severe, that represent two ends of a wide spectrum of clinical severity. The aim of this study is to review the involvement of the skeletal-muscle system in MPS-II.
II型黏多糖贮积症（MPS-II）是一种罕见的溶酶体贮积病，由艾杜糖醛酸-2-硫酸酯酶活性缺乏引起。该酶负责两种不同糖胺聚糖（GAGs），即硫酸皮肤素和硫酸乙酰肝素的分解代谢。这些GAG分子在溶酶体中的积累导致细胞、组织和器官功能障碍。骨骼肌系统受累是由于关节和结缔组织中GAGs的大量积累。MPS-II有许多临床特征，包括两个公认的临床类型，即轻度和重度，它们代表了广泛临床严重程度范围的两端。本研究的目的是综述MPS-II中骨骼肌系统的受累情况。
