Abstract
Shwachman-Diamond syndrome is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. This article focuses on the clinical presentation, diagnostic work-up, clinical management, and treatment of patients with Shwachman-Diamond syndrome.
Publication types
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Bone Marrow Diseases / diagnosis*
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Bone Marrow Diseases / genetics
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Bone Marrow Diseases / pathology*
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Bone Marrow Diseases / therapy
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Exocrine Pancreatic Insufficiency / diagnosis*
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Exocrine Pancreatic Insufficiency / genetics
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Exocrine Pancreatic Insufficiency / pathology*
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Exocrine Pancreatic Insufficiency / therapy
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Genes, Recessive
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Hematopoietic Stem Cell Transplantation
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Humans
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Leukemia / etiology*
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Proteins / analysis
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Proteins / genetics*
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Proteins / metabolism
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Syndrome
Substances
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Proteins
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SBDS protein, human