Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.
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.
Burroughs
Lauri
L
Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, D1-100, PO Box 19024, Seattle, WA 98109-1024, USA. lburroug@fhcrc.org
Woolfrey
Ann
A
Shimamura
Akiko
A