Shwachman-Diamond syndrome: Difference between revisions

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==Clinical Management and Treatments==
Pancreatic exocrine insufficiency may be treated through pancreatic enzyme supplementation, while severe skeletal abnormalities may require surgical intervention.  Neutropenia may be treated with [[granulocyte-colony stimulating factor]] (GCSF) to boost peripheral neutrophil counts.  However, there is ongoing and unresolved concern that this drug could contribute to the development of [[leukemia]].  Signs of progressive marrow failure may warrant [[bone marrow transplantation]] (BMT).  This has been used successfully to treat hematological aspects of disease.  However, SDS patients have an elevated occurrence of BMT-related adverse events, including [[graft-versus-host disease]] (GVHD) and toxicity relating to the pre-transplant conditioning regimen.  In the long run, study of the gene that is mutated in SDS should improve understanding of the molecular basis of disease.  This, in turn, may lead to novel therapeutic strategies, including [[gene therapy]] and other gene- or protein-based approaches.


==See also==
==See also==

Revision as of 17:31, 21 September 2012

For patient information click here

Shwachman-Diamond syndrome
OMIM 260400
DiseasesDB 11894

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Congenital lipomatosis of pancreas;

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References

  • Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ (2005). "Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome". J Biol Chem. 280 (19): 19221–9. PMID 15701631.
  • Cesaro S, Oneto R, Messina C, Gibson BE, Buzyn A, Steward C, Gluckman E, Breddius R, Boogaerts M, Vermylen C, Veys P, Marsh J, Badell I, Michel G, Gungor T, Niethammer D, Bordigoni P, Oswald C, Favre C, Passweg J, Dini G (2005). "Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation". Br J Haematol. 31 (2): 231–6. PMID 16197455.
  • Donadieu J, Michel G, Merlin E, Bordigoni P, Monteux B, Beaupain B, Leverger G, Laporte JP, Hermine O, Buzyn A, Bertrand Y, Casanova JL, Leblanc T, Gluckman E, Fischer A, Stephan JL (2005). "Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry". Bone Marrow Transplant. 36 (9): 787–92. PMID 16151425.
  • Austin KM, Leary RJ, Shimamura A (2005). "The Shwachman-Diamond SBDS protein localizes to the nucleolus". Blood. 106 (4): 1253–8. PMID 15860664.
  • Makitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG (2004). "Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS". Clin Genet. 65 (2): 101–12. PMID 14984468.
  • Boocock GRB, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM (2003). "Mutations in SBDS are associated with Shwachman-Diamond syndrome". Nat Genet. 33 (1): 97–101. PMID 12496757.
  • Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM (2002). "Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene". Eur J Hum Genet. 10 (4): 250–8. PMID 12032733.
  • Smith OP (2002). "Shwachman-Diamond syndrome". Semin Hematol. 39 (2): 95–102. PMID 11957191.
  • Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Betard C, Brewer CG, Roslin NM, Hudson TJ, Morgon K, Fujiwara TM, Durie PR, Rommens JM (2001). "Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7". Am J Hum Genet. 68 (4): 1048–54. PMID 11254457.
  • Cipolli M (2001). "Shwachman-Diamond syndrome: clinical phenotypes". Pancreatology. 1 (5): 543–8. PMID 12120235.
  • Cipolli M, D'Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G (1999). "Shwachman's syndrome: pathomorphosis and long-term outcome". J Pediatr Gastroenterol Nutr. 29 (3): 265–72. PMID 10467990.
  • Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR (1999). "Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar". J Pediatr. 135 (1): 81–8. PMID 10393609.
  • Michels VV, Donovan GK (1982). "Shwachman syndrome: unusual presentation as asphyxiating thoracic dystrophy". Birth Defects Orig Artic Ser. 18 (3B): 129–34. PMID 7139093.
  • Shwachman H, Diamond LK, Oski FA, Khaw KT (1964). "The syndrome of pancreatic insufficiency and bone marrow dysfunction". J Pediatr. 65: 645–63. PMID 14221166.
  • Bodian M, Sheldon W, Lightwood R (1964). "Congenital hypoplasia of the exocrine pancreas". Acta Paediatr. 53: 282–93. PMID 14158482.

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