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 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.
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21231, USA.
J W
JW
Hsu
G
G
Vogelsang
R J
RJ
Jones
R A
RA
Brodsky
D000328:Adult; D000754:Anemia, Refractory, with Excess of Blasts; D016026:Bone Marrow Transplantation; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis / Q000628:therapy*; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000628:therapy*; D010198:Pancytopenia; D013577:Syndrome; D014184:Transplantation, Homologous; D014185:Transplantation, Isogeneic