Document Detail


Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
MedLine Citation:
PMID:  22191555     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management are presented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based on the consensus of experienced clinicians from Canada, Europe, and the United States. Whenever possible, evidence-based conclusions are made, but as with other rare diseases, the data on SDS are often anecdotal. The authors welcome comments from readers.
Authors:
Yigal Dror; Jean Donadieu; Jutta Koglmeier; John Dodge; Sanna Toiviainen-Salo; Outi Makitie; Elizabeth Kerr; Cornelia Zeidler; Akiko Shimamura; Neil Shah; Marco Cipolli; Taco Kuijpers; Peter Durie; Johanna Rommens; Liesbeth Siderius; Johnson M Liu
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Publication Detail:
Type:  Consensus Development Conference; Journal Article    
Journal Detail:
Title:  Annals of the New York Academy of Sciences     Volume:  1242     ISSN:  1749-6632     ISO Abbreviation:  Ann. N. Y. Acad. Sci.     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-12-23     Completed Date:  2012-02-13     Revised Date:  2014-04-08    
Medline Journal Info:
Nlm Unique ID:  7506858     Medline TA:  Ann N Y Acad Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  40-55     Citation Subset:  IM    
Copyright Information:
© 2011 New York Academy of Sciences.
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MeSH Terms
Descriptor/Qualifier:
Bone Marrow Diseases / diagnosis*,  therapy*
Evidence-Based Medicine
Exocrine Pancreatic Insufficiency / diagnosis*,  therapy*
Humans
Lipomatosis / diagnosis*,  therapy*
Phenotype
Practice Guidelines as Topic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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