Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome

• Published in: Bone marrow transplantation (Basingstoke) Vol. 29; no. 1; pp. 75 - 79
• Main Authors: FLEITZ, J, RUMELHART, S, GILLER, R, GOLDMAN, F, AMBRUSO, D, SOKOL, R. J, PACINI, D, QUINONES, R, HOLIDA, M, LEE, N, TANNOUS, R
• Format: Journal Article
• Language: English
• Published: Basingstoke Nature Publishing Group 2002
• Subjects: Abnormalities, Multiple - therapy; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Bone Marrow Diseases - therapy; Bone marrow, stem cells transplantation. Graft versus host reaction; Child, Preschool; Exocrine Pancreatic Insufficiency - therapy; Female; Hematopoietic Stem Cell Transplantation - methods; Humans; Medical sciences; Musculoskeletal Abnormalities - therapy; Stem cell transplantation; Syndrome; Transfusions. Complications. Transfusion reactions. Cell and gene therapy; Transplantation Chimera; Transplantation Conditioning - methods; Transplantation, Homologous - methods; Treatment Outcome; Case study; Human; Shwachman Diamond syndrome; Blood cell; Treatment; Stem cell; Hematopoietic cell; Homograft; Bone marrow; Graft; Umbilical cord
• ISSN: 0268-3369; 1476-5365
• DOI: 10.1038/sj.bmt.1703321

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.