Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients

作者：Mynarek M; Tolar J; Albert M H; Escolar M L; Boelens J J; Cowan M J; Finnegan N; Glomstein A; Jacobsohn D A; Kuehl J S; Yabe H; Kurtzberg J; Malm D; Orchard P J; Klein C; Luecke T; Sykora K W^*

来源：Bone Marrow Transplantation, 2012, 47(3): 352-359.

DOI：10.1038/bmt.2011.99

• alpha-mannosidosis
• hematopoietic SCT
• lysosomal storage disease
• inborn errors of metabolism
• neurodevelopment
• outcome

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 (%26gt; = 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%26apos; 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

• 出版日期2012-3