Bone marrow transplantation in Shwachman-Diamond syndrome.

Abstract

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 therapeutic approach for SDS patients with serious hematologic abnormalities with mixed results. There is some concern that these patients may be more susceptible 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.

• Authors: J W Hsu, G Vogelsang, R J Jones, R A Brodsky
• Journal: Bone marrow transplantation (Bone Marrow Transplant) Vol. 30 Issue 4 Pg. 255-8 (Aug 2002) ISSN: 0268-3369 [Print] England
• PMID: 12203143 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Adult
• Anemia, Refractory, with Excess of Blasts
• Bone Marrow Transplantation
• Exocrine Pancreatic Insufficiency (diagnosis, therapy)
• Fatal Outcome
• Humans
• Male
• Myelodysplastic Syndromes (diagnosis, therapy)
• Pancytopenia
• Syndrome
• Transplantation, Homologous
• Transplantation, Isogeneic