, Rede MPS Brasil Brazil.
Genet Mol Biol. 2010 Oct;33(4):589-604. doi: 10.1590/S1415-47572010005000093. Epub 2010 Dec 1.
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
黏多糖贮积症（MPS）是一类罕见的遗传性疾病，由溶酶体酶缺乏引起，这些酶参与糖胺聚糖（GAG）分解途径。这种代谢障碍导致 GAG 在受影响患者的各种器官和组织中积累，导致多系统临床症状，有时包括认知障碍。直到 21 世纪初，治疗主要还是支持性的。骨髓移植改善了某些类型 MPS 的疾病自然进程，但发病率和死亡率限制了其在选定病例中的应用。相关基因的鉴定、新的分子生物学工具以及动物模型的可用性，使得针对这些疾病的特定酶替代疗法（ERT）成为可能。目前，巴西全国各地的许多医疗中心都有 MPS I、II 和 VI 的 ERT 治疗经验，这些经验不仅来自于患者的治疗，也来自于临床试验。这三种类型的 MPS 加起来，巴西已经有 200 多名患者接受了 ERT 治疗。本文总结了相关专业人员的经验，以及国际文献中的现有数据，汇集并协调了关于这些严重且进行性疾病管理的可用信息，为巴西受这些疾病影响的患者带来了新的前景。
