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Shwachman–Diamond syndrome presenting as a chronic liver disease

✍ Scribed by P. Vitucci; D. Campani; S. Caprai; C. Centenari; E. Pantani; G. Palla; C. Ughi; G. Maggiore

Book ID: 119229254
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 76 KB
Volume: 40
Category: Article
ISSN: 1590-8658
DOI: 10.1016/j.dld.2008.07.297

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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 w