Bone marrow transplantation in Shwachman-Diamond syndrome

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29 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)255-258
Number of pages4
JournalBone marrow transplantation
Issue number4
StatePublished - 2002


  • Allogeneic transplant
  • Aplastic anemia
  • Congenital anemia
  • Myelodyplasia
  • Pancreatic insufficiency
  • Shwachman-Diamond syndrome

ASJC Scopus subject areas

  • Hematology
  • Transplantation


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