Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update

Hematol Oncol Clin North Am. 2013 Feb;27(1):117-28, ix. doi: 10.1016/j.hoc.2012.10.003. Epub 2012 Nov 3.


Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of aplastic anemia and malignant transformation. Multiple additional organ systems, including the pancreas, liver, and skeletal and central nervous systems, are affected. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are present in most patients. There is growing evidence that SBDS functions in ribosomal biogenesis and other cellular processes. This article summarizes the clinical phenotype of SDS, diagnostic and treatment approaches, and novel advances in our understanding of the molecular pathophysiology of this disease.

Publication types

  • Review

MeSH terms

  • Bone Marrow Diseases / diagnosis*
  • Bone Marrow Diseases / etiology
  • Bone Marrow Diseases / therapy*
  • Cellular Microenvironment
  • Exocrine Pancreatic Insufficiency / diagnosis*
  • Exocrine Pancreatic Insufficiency / etiology
  • Exocrine Pancreatic Insufficiency / therapy*
  • Genomic Instability
  • Humans
  • Lipomatosis / diagnosis*
  • Lipomatosis / etiology
  • Lipomatosis / therapy*
  • Ribosomes / metabolism
  • Shwachman-Diamond Syndrome
  • Stromal Cells / metabolism