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• W2068124243 abstract "Shwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Patients with SDS have varying degrees of marrow aplasia, which can be severe or progress to leukemic transformation. While allogeneic hematopoietic stem cell transplantation (HSCT) can be curative for the hematologic disturbances of SDS, a recent review of the literature reveals few survivors. Poor outcome with HSCT is often related to excessive cardiac and other organ toxicity from transplant preparative therapy. We describe two young children with SDS who developed aplastic anemia and subsequently underwent successful allografting using a non-cardiotoxic conditioning regimen. Case 1 received marrow from an HLA-identical sibling while case 2 received partially matched umbilical cord blood from an unrelated donor. Both patients are presently alive and well with sustained donor engraftment and excellent hematopoietic function at 36 and 22 months post-HSCT." @default.
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• W2068124243 date "2002-01-01" @default.
• W2068124243 modified "2023-10-06" @default.
• W2068124243 title "Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman–Diamond syndrome" @default.
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• W2068124243 doi "https://doi.org/10.1038/sj.bmt.1703321" @default.
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