| Literature DB >> 21552297 |
M Mynarek1, J Tolar, M H Albert, M L Escolar, J J Boelens, M J Cowan, N Finnegan, A Glomstein, D A Jacobsohn, J S Kühl, H Yabe, J Kurtzberg, D Malm, P J Orchard, C Klein, T Lücke, K-W Sykora.
Abstract
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.Entities:
Mesh：
Year: 2011 PMID： 21552297 DOI： 10.1038/bmt.2011.99
Source DB: PubMed Journal: Bone Marrow Transplant ISSN： 0268-3369 Impact factor: 5.483