1. ¹Department of Hematology Oncology, Cincinnati Children's Hospital and Medical Center, Cincinnati, OH, USA
2. ²Division of Hematology Oncology, Cardinal Glennon Children's Medical Center, St Louis, MO, USA
3. ³Department of Hematology Oncology, St Louis Children's Hospital, St Louis, MO, USA

Correspondence: Dr D Bhatla, Cardinal Glennon Children's Medical Center, 1465 South Grand Boulevard, St Louis, MO 63104, USA. E-mail: dbhatla@slu.edu

Received 31 December 2007; Revised 3 April 2008; Accepted 12 April 2008; Published online 26 May 2008.

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is the only potentially curative treatment for the BM dysfunction seen in patients with Shwachman–Diamond syndrome (SDS). Historically, these patients have fared poorly with intensive conditioning regimens with increased regimen-related toxicity especially involving the heart and lungs. We report our institutional experience with a reduced-intensity-conditioning protocol in seven patients with SDS and BM aplasia or myelodysplastic syndrome/AML. The preparative regimen consisted of Campath-1H, fludarabine and melphalan. Four patients received matched related marrow and three received unrelated stem cells (two PBSCs and one marrow). All but one was 8 of 8 allele HLA matched. All patients established 100% donor-derived hematopoiesis. No patient in this cohort developed grades III–IV GVHD. One patient had grade II skin GVHD that responded to systemic corticosteroids and one had grade I skin GVHD, treated with topical corticosteroids. Two out of seven patients developed bacterial infections in the early post transplant period. Viral infections were seen in four out of seven patients and were successfully treated with appropriate antiviral therapy. All patients are currently alive. These data indicate that HSCT with reduced-intensity conditioning is feasible in patients with SDS and associated with excellent donor cell engraftment and modest morbidity.