Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
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.
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, University of Cincinnati, 3333 Burnet Avenue, MLC 7015, Cincinnati, OH 45229, USA. kasiani.myers@cchmc.org
Kasiani C
KC
Myers
Stella M
SM
Davies
Akiko
A
Shimamura
D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D060833:Cellular Microenvironment; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D042822:Genomic Instability; D006801:Humans; D008068:Lipomatosis / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D012270:Ribosomes / Q000378:metabolism; D000081003:Shwachman-Diamond Syndrome; D017154:Stromal Cells / Q000378:metabolism