| [Alagille syndrome]. | |
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MedLine Citation:
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PMID: 23224309 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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Mirta Ciocca; Fernando Alvarez |
Publication Detail:
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Type: English Abstract; Journal Article |
Journal Detail:
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Title: Archivos argentinos de pediatría Volume: 110 ISSN: 1668-3501 ISO Abbreviation: Arch Argent Pediatr Publication Date: 2012 Dec |
Date Detail:
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Created Date: 2012-12-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372460 Medline TA: Arch Argent Pediatr Country: Argentina |
Other Details:
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Languages: spa Pagination: 509-15 Citation Subset: IM |
Affiliation:
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Hepatología y Trasplante Hepático Pediátrico, Hospital Alemán, Buenos Aires. |
Vernacular Title:
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Síndrome de Alagille. |
Export Citation:
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Descriptor/Qualifier:
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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