Document Detail


Medical management of Alagille syndrome.
MedLine Citation:
PMID:  20479679     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alagille syndrome is a highly variable, autosomal dominant disorder that affects the liver, heart, eyes, face, skeleton, kidneys, and vascular system. Much has been learned about the genetics of this disorder, which is caused primarily by mutations in the Notch signaling pathway ligand JAGGED1; however, the medical management of this condition is complex and continues to generate controversy. The significant variability of organ involvement requires the managing physician to have an understanding of the breadth and interplay of the variable manifestations. Furthermore, the liver disease in particular requires an appreciation of the natural history and evolution of the profound cholestasis.
Authors:
Binita M Kamath; Kathleen M Loomes; David A Piccoli
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric gastroenterology and nutrition     Volume:  50     ISSN:  1536-4801     ISO Abbreviation:  J. Pediatr. Gastroenterol. Nutr.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-26     Completed Date:  2010-11-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8211545     Medline TA:  J Pediatr Gastroenterol Nutr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  580-6     Citation Subset:  IM    
Affiliation:
Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada. binita.kamath@sickkids.ca
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MeSH Terms
Descriptor/Qualifier:
Alagille Syndrome / complications,  diagnosis,  therapy*
Calcium-Binding Proteins / genetics
Cholagogues and Choleretics / therapeutic use
Humans
Infant, Newborn
Intercellular Signaling Peptides and Proteins / genetics
Membrane Proteins / genetics
Mutation
Chemical
Reg. No./Substance:
0/Calcium-Binding Proteins; 0/Cholagogues and Choleretics; 0/Intercellular Signaling Peptides and Proteins; 0/Membrane Proteins; 134324-36-0/Serrate proteins

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


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