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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 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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References

  1. Shwachman H, Diamond LK, Oski FA, Khaw K . The syndrome of pancreatic insufficiency and bone marrow dysfunction J Pediat 1964 65: 645 663

    CAS  Article  Google Scholar 

  2. Young NS, Alter BP . Shwachman–Diamond syndrome In: Young NS, Alter BP (eds) Aplastic Anemia Acquired and Inherited Saunders: Philadelphia 1994 pp 340 346

    Google Scholar 

  3. Williams DM . Pancytopenia, aplastic anemia, and pure red cell aplasia. In: Lee GR, Forrester J, Lukas J et al (eds) Wintrobe's Clinical Hematology, 10th edn Lippincott Williams & Wilkins: Philadelphia 1999 1449 1484

    Google Scholar 

  4. Smith OP, Hann IM, Chessells JM et al. Haematological abnormalities in Shwachman–Diamond syndrome Br J Haematol 1996 94: 279 284

    CAS  Article  Google Scholar 

  5. Ginzberg H, Shin J, Ellis L et al. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar J Pediat 1999 135: 81 88

    CAS  Article  Google Scholar 

  6. Mack DR, Forstner GG, Wilschanski M et al. Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression Gastroenterology 1996 111: 1593 1602

    CAS  Article  Google Scholar 

  7. Okcu F, Roberts WM, Chan KW . Bone marrow transplantation in Shwachman–Diamond syndrome: report of two cases and review of the literature Bone Marrow Transplant 1998 21: 849 851

    CAS  Article  Google Scholar 

  8. Spirito FR, Crescenzi B, Matteucci C et al. Cytogenetic characterization of acute myeloid leukemia in Shwachman's Syndrome. A case report Haematologica 2000 85: 1207 1210

    CAS  PubMed  Google Scholar 

  9. Nevill TJ, Fung HC, Shepherd JD et al. Cytogenetic abnormalities in primary myelodysplastic syndrome are highly predictive of outcome after allogeneic bone marrow transplantation Blood 1998 92: 1910 1917

    CAS  PubMed  Google Scholar 

  10. Tsai PH, Sahdev I, Herry A, Lipton JM . Fatal cyclophosphamide-induced congestive heart failure in a 10-year-old boy with Shwachman–Diamond syndrome and severe bone marrow failure treated with allogeneic bone marrow transplantation Am J Pediat Hematol/Oncol 1990 12: 472 476

    CAS  Article  Google Scholar 

  11. Savilathi E, Rapola J . Frequent myocardial lesions in Shwachman's syndrome Acta Paediatr Scand 1984 73: 642 651

    Article  Google Scholar 

  12. Locatelli F, Zecca M, Niemeyer C et al. Role of allogeneic bone marrow transplantation fo the treatment of myelodysplastic syndromes in childhood. The European Working Group on Childhood Myelodysplastic Syndrome (EWOG-MDS) and the Austria–Germany–Italy (AGI) Bone Marrow Transplantation Registry Bone Marrow Transplant 1996 18: (Suppl. 2) 63 68

    PubMed  Google Scholar 

  13. Dror Y, Freedman MH . Schwachman–Diamond syndrome: an inherited preleukemic bone marrow failure disorder with abberant hematopoietic progenitors and faulty marrow microenvironment Blood 1999 94: 3048 3054

    CAS  PubMed  Google Scholar 

  14. Barrios N, Kirkpatrick D, Regueria O et al. Bone marrow transplant in Shwachman–Diamond syndrome Br J Haematol 1991 79: 337 338

    CAS  Article  Google Scholar 

  15. Seymour JF, Escudier SM . Acute leukemia complicationg bone marrow hypoplasia in an adult with Shwachman's syndrome Leuk Lymphoma 1993 12: 131 135

    CAS  Article  Google Scholar 

  16. Smith OP, Chan MY, Evans J, Veys P . Shwachman–Diamond syndrome and matched unrelated donor BMT Bone Marrow Transplant 1995 16: 717 718

    CAS  Google Scholar 

  17. Bunin N, Leahey A, Dunn S . Related donor liver transplant for veno-occlusive disease following T-depleted unrelated donor bone marrow transplantation Transplantation 1996 61: 664 666

    CAS  Article  Google Scholar 

  18. Arseniev L, Diedrich H, Link H . Allogeneic bone marrow transplantation in a patient with Shwachman–Diamond syndrome Ann Hematol 1996 72: 83 84

    CAS  Article  Google Scholar 

  19. Davies SM, Wagner JE, Defor T et al. Unrelated donor bone marrow transplantation for children and adolescents with aplastic anaemia or myelodysplasia Br J Haematol 1997 96: 749 756

    CAS  Article  Google Scholar 

  20. Dokal I, Rule S, Chen F et al. Adult onset of acute myeloid leukaemia (M6) in patients With Shwachman–Diamond syndrome Br J Haematol 1997 99: 171 173

    CAS  Article  Google Scholar 

  21. Faber J, Lauener R, Wick F et al. Shwachman–Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis Eur J Pediat 1999 158: 995 1000

    CAS  Article  Google Scholar 

  22. Cesaro S, Guariso G, Calore E et al. Successful unrelated bone marrow transplantation for Shwachman–Diamond syndrome Bone Marrow Transplant 2001 27: 97 99

    CAS  Article  Google Scholar 

Download references

Acknowledgements

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). https://doi.org/10.1038/sj.bmt.1703631

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Keywords

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

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