Shwachman-Diamond증후군에서 골수이식 경험1례

초록

Shwachman-Diamond syndrome(SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia(M2) in a 21-year old woman affected by SDS. She was treated with conventional chemotherapy(Idarubicin plus cytarabine) and reached complete remission of leukemia. After induction chemotherapy, she underwent allogeneic bone marrow transplantation. The BMT preparative regimen consisted of total body irradation(TBI), followed by cyclophosphamide. Cyclosporin A and short methotrexate were used for graft-versus-host disease prophylaxis. After a follow-up of 12 months, she is alive off any immunosuppressive agent. Although experience in this field is scarce, we speculate that bone marrow failure in SDS is an indication for BMT and may be associated with a better outcome.