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Bone marrow transplantation in Shwachman–Diamond syndrome


Shwachman–Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic dysfunction, metaphyseal dysostosis and bone marrow dysfunction with a predilection towards severe hematologic complications. Allogeneic bone marrow transplantation has been used as a theraputic approach for SDS patients with serious hematologic abnormalities with mixed results. There is some concern that these patients may be more suceptible to early (<100 days) transplant-related complications than other transplant groups. We report a patient who received a matched allogeneic transplant without developing serious early transplant-related complications, but eventually died from relapse of his disease. Although experience is limited, a review of the reported cases suggests patients with SDS may be transplanted without significant short-term morbidity and mortality.

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Robert A Brodsky is a Leukemia and Lymphoma Society Clinical Research Scholar.

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Hsu, J., Vogelsang, G., Jones, R. et al. Bone marrow transplantation in Shwachman–Diamond syndrome. Bone Marrow Transplant 30, 255–258 (2002).

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  • Shwachman–Diamond syndrome
  • allogeneic transplant
  • aplastic anemia
  • myelodysplasia
  • congenital anemia
  • pancreatic insufficiency

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