Vellodi A, Cragg H, Winchester B, Young E, Young J, Downie C J, Hoare R D, Stocks R, Banerjee G K
Bone Marrow Transplant Unit, Westminster Children's Hospital, Vincent Square, London, UK.
Bone Marrow Transplant. 1995 Jan;15(1):153-8.
Bone marrow transplantation was performed on an 8-month-old boy who was diagnosed as having fucosidosis following the diagnosis of the disease in his older brother. Although he was asymptomatic and his development was normal, abnomalities were found on an MRI scan prior to transplant. In the absence of a suitable related donor, an unrelated volunteer donor was used. Conditioning for the transplant consisted of busulphan and cyclophosphamide. Graft-versus-host disease prophylaxis consisted of in vitro T cell-depletion of the bone marrow and in vivo administration of cyclosporin. The post-transplant period was complicated by moderately severe graft-versus-host disease. Engraftment was documented by the presence of donor levels of alpha-fucosidase, donor blood group and tissue type (difference in the DQ antigen), and chromosomal polymorphism pattern of donor origin. Eighteen months after transplant, there is evidence of mild neurodevelopmental delay. By contrast, his elder sibling showed far greater developmental delay at the same age. The patient's MRI scan shows improvement. We believe this to be the first case of human fucosidosis treated by bone marrow transplantation.
一名8个月大的男童接受了骨髓移植。该男童的哥哥被诊断患有岩藻糖苷贮积症后，他也被诊断出患有此病。尽管他没有症状且发育正常，但在移植前的MRI扫描中发现了异常。由于没有合适的相关供体，于是使用了一名无关的志愿供体。移植预处理包括白消安和环磷酰胺。移植物抗宿主病的预防措施包括对骨髓进行体外T细胞清除以及体内给予环孢素。移植后的时期出现了中度严重的移植物抗宿主病。通过供体水平的α-岩藻糖苷酶、供体血型和组织类型（DQ抗原差异）以及供体来源的染色体多态性模式证明了植入。移植18个月后，有轻度神经发育迟缓的迹象。相比之下，他的哥哥在同一年龄时表现出更严重的发育迟缓。患者的MRI扫描显示有所改善。我们认为这是首例通过骨髓移植治疗的人类岩藻糖苷贮积症病例。
