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Shwachman‐Diamond syndrome
Author(s) -
Dror Yigal
Publication year - 2005
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20478
Subject(s) - medicine , cytopenia , bone marrow failure , disease , bone marrow , exocrine pancreatic insufficiency , haematopoiesis , leukemia , pathology , bioinformatics , immunology , genetics , stem cell , pancreas , biology
Shwachman‐Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. SDS is also characterized by a risk of myelodysplasia and leukemia in up to one third of the patients. Over the last 5 years, major advances have been made in understanding the bone marrow phenotype. The gene associated with the disease, SBDS , has recently been identified. Herein we provide an update on the clinical features, the hematopoietic defects, and the genetics of the disease as they are currently understood. We also review the diagnostic and therapeutic approaches to the hematological complications in the syndrome. © 2005 Wiley‐Liss, Inc.