Document Detail


[Alagille syndrome].
MedLine Citation:
PMID:  23224309     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Alagille syndrome (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused by mutations in JAGGED1 (more than 90%) and in NOTCH2. Differential diagnosis include: infections, genetic-metabolic diseases, biliary atresia, idiopathic cholestasis. Cholestasis, pruritus and xanthomas have been successfully treated with choleretic agents (ursodeoxycholic acid) and other medications (cholestyramine, rifampin, naltrexone). In certain cases, partial external biliary diversion has also proved successful. Liver transplantation is indicated in children with cirrhosis and liver failure.
Authors:
Mirta Ciocca; Fernando Alvarez
Publication Detail:
Type:  English Abstract; Journal Article    
Journal Detail:
Title:  Archivos argentinos de pediatría     Volume:  110     ISSN:  1668-3501     ISO Abbreviation:  Arch Argent Pediatr     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372460     Medline TA:  Arch Argent Pediatr     Country:  Argentina    
Other Details:
Languages:  spa     Pagination:  509-15     Citation Subset:  IM    
Affiliation:
Hepatología y Trasplante Hepático Pediátrico, Hospital Alemán, Buenos Aires.
Vernacular Title:
Síndrome de Alagille.
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