Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment

✍ Scribed by Burroughs, Lauri; Woolfrey, Ann; Shimamura, Akiko

• Book ID: 120489557
• Publisher: Elsevier Science
• Year: 2009
• Tongue: English
• Weight: 171 KB
• Volume: 23
• Category: Article
• ISSN: 0889-8588
• DOI: 10.1016/j.hoc.2009.01.007

✦ Synopsis

Shwachman-Diamond syndrome (SDS) 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. Around 90% of patients with clinical features of SDS have biallellic mutations in the evolutionarily conserved Shwachman-Bodian-Diamond Syndrome (SBDS) gene located on chromosome 7. 1 The SBDS protein plays a role in ribosome biogenesis and in mitotic spindle stabilization, although its precise