Department of Pediatrics, Division of Hematopoietic Stem Cell Transplantation, University of Minnesota, Minneapolis, MN 55455, USA.
Semin Hematol. 2010 Jan;47(1):70-8. doi: 10.1053/j.seminhematol.2009.10.006.
Hematopoietic stem cell transplantation (HSCT) has been used for three decades as therapy for lysosomal storage diseases. Stable engraftment following transplantation has the potential to provide a source of an enzyme for the life of a patient. Recombinant enzyme is available for disorders that do not have a primary neurologic component. However, for diseases affecting the central nervous system (CNS), intravenous enzyme is ineffective due to its inability to cross the blood-brain barrier. For selected lysosomal disorders, including metachromatic leukodystrophy and globoid cell leukodystrophy, disease phenotype and the extent of disease at the time of transplantation are of fundamental importance in determining outcomes. Adrenoleukodystrophy is an X-linked, peroxisomal disorder, and in approximately 40% of cases a progressive, inflammatory condition develops in the CNS. Early in the course of the disease, allogeneic transplantation can arrest the disease process in cerebral adrenoleukodystrophy, while more advanced patients do poorly. In many of these cases, the utilization of cord blood grafts allows expedient transplantation, which can be critical in achieving optimal outcomes.
造血干细胞移植（HSCT）已被用于治疗溶酶体贮积症三十年。移植后稳定的植入有可能为患者的一生提供一种酶的来源。对于没有主要神经成分的疾病，可使用重组酶。然而，对于影响中枢神经系统（CNS）的疾病，由于其无法穿过血脑屏障，静脉内酶无效。对于某些溶酶体贮积症，包括异染性脑白质营养不良和球形细胞脑白质营养不良，移植时疾病表型和疾病程度对于确定结局至关重要。肾上腺脑白质营养不良是一种 X 连锁、过氧化物酶体疾病，约 40%的病例中，CNS 中会发生进行性炎症性疾病。在疾病的早期，同种异体移植可以阻止脑肾上腺脑白质营养不良的疾病进程，而更晚期的患者则效果不佳。在许多此类病例中，利用脐带血移植物可进行快速移植，这对于获得最佳结局至关重要。
