Division of Pediatric Blood and Marrow Transplantation, Duke University Medical Center, Durham, NC 27710, USA.
Semin Hematol. 2010 Jan;47(1):59-69. doi: 10.1053/j.seminhematol.2009.10.008.
The mucopolysaccharidoses (MPSs) are inherited metabolic disorders (IMDs) caused by single-gene defects leading to progressive cellular accumulation of glycosaminoglycans (GAGs) and damage to multiple organs, including the central nervous, musculoskeletal, cardiorespiratory, and other systems. Hurler syndrome (MPS IH), the most severe form, is the prototypical model. Enzyme replacement therapy (ERT), available for MPS I, II, and VI, is beneficial in some patients. However, ERT does not improve neurocognitive function because of its inability to cross the blood-brain barrier. In contrast, allogeneic hematopoietic stem cell transplantation (HSCT) allows donor-derived, enzyme-producing cells to migrate to the brain and other organs to provide permanent enzyme therapy and thus help somatic organs, improve neurocognitive function and quality of life, and prolong survival, particularly when performed early in the course of the disease. Bone marrow has been the graft source in the past. However, in the last 5 years many patients have been treated with unrelated donor (URD) umbilical cord blood transplant (UCBT), allowing rapid and increased access to transplantation with favorable outcomes. This review describes published and our institutional clinical experiences, discusses the current status of the field, and provides therapy guidelines for patients with MPS.
黏多糖贮积症（MPS）是由单基因缺陷引起的遗传性代谢疾病（IMD），导致糖胺聚糖（GAG）在细胞内进行性积累，并损害包括中枢神经系统、肌肉骨骼系统、心肺和其他系统在内的多个器官。黏多糖贮积症 I 型（MPS IH）是最严重的一种形式，是典型的模型。黏多糖贮积症 I、II 和 VI 型可用酶替代疗法（ERT）治疗，对一些患者有益。然而，由于 ERT 无法穿过血脑屏障，因此不能改善神经认知功能。相比之下，异基因造血干细胞移植（HSCT）允许供体产生酶的细胞迁移到大脑和其他器官，提供永久性的酶治疗，从而有助于身体器官，改善神经认知功能和生活质量，并延长生存时间，特别是在疾病早期进行时。过去，骨髓是移植物的来源。然而，在过去的 5 年中，许多患者接受了无关供体（URD）脐带血移植（UCBT）的治疗，这使得更多患者能够快速获得并接受移植治疗，并取得了良好的效果。这篇综述描述了已发表的和我们机构的临床经验，讨论了该领域的现状，并为 MPS 患者提供了治疗指南。
