Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients
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DOI：
10.1038/bmt.2011.99
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发表时间：
2012-03-01
影响因子：
4.8
通讯作者：
Sykora, K-W
中科院分区：
文献类型：
--
作者：
Mynarek, M.;Tolar, J.;Sykora, K-W
α-甘露糖苷沉积症是一种罕见的溶酶体沉积症。造血干细胞移植（HSCT）通常被推荐为一种治疗选择，尽管迄今为止的报告是轶事。这项回顾性多机构分析描述了17例患者，这些患者在中位年龄2.5（1.1-23）岁时确诊，并在中位年龄3.6（1.3-23.1）岁时接受HSCT。在中位随访5.5（2.1-12.6）年后，共有15例患者存活（88%）。两名患者在HSCT后的前5个月内死亡。在存活者中，2人发展为严重急性GvHD（> = II级），6人发展为慢性GvHD。3例患者因移植失败需要再次移植。所有15例均显示稳定的植入。HSCT前患者发育迟缓的程度差异很大。HSCT后，患者取得了发育进展，尽管没有实现正常发育。部分患者的听力得到改善，但并非所有患者。我们的结论是，HSCT是一种可行的治疗选择，可能会促进智力发育的α-甘露糖苷酸中毒。Bone Marrow Transplantation（2012）47，352-359; doi：10.1038/bmt.2011.99; 2011年5月9日在线发表
Alpha-mannosidosis is a rare lysosomal storage disease. Hematopoietic SCT (HSCT) is usually recommended as a therapeutic option though reports are anecdotal to date. This retrospective multi institutional analysis describes 17 patients that were diagnosed at a median of 2.5 (1.1-23) years and underwent HSCT at a median of 3.6 (1.3-23.1) years. In all, 15 patients are alive (88%) after a median follow-up of 5.5 (2.1-12.6) years. Two patients died within the first 5 months after HSCT. Of the survivors, two developed severe acute GvHD (> = grade II) and six developed chronic GvHD. Three patients required re-transplantation because of graft failure. All 15 showed stable engraftment. The extent of the patients' developmental delay before HSCT varied over a wide range. After HSCT, patients made developmental progress, although normal development was not achieved. Hearing ability improved in some, but not in all patients. We conclude that HSCT is a feasible therapeutic option that may promote mental development in alpha-mannosidosis. Bone Marrow Transplantation (2012) 47, 352-359; doi:10.1038/bmt.2011.99; published online 9 May 2011