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Alagille syndrome: clinical perspectives
Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embry...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove Medical Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935120/ https://www.ncbi.nlm.nih.gov/pubmed/27418850 http://dx.doi.org/10.2147/TACG.S86420 |
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author | Saleh, Maha Kamath, Binita M Chitayat, David |
author_facet | Saleh, Maha Kamath, Binita M Chitayat, David |
author_sort | Saleh, Maha |
collection | PubMed |
description | Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. |
format | Online Article Text |
id | pubmed-4935120 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-49351202016-07-14 Alagille syndrome: clinical perspectives Saleh, Maha Kamath, Binita M Chitayat, David Appl Clin Genet Review Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. Dove Medical Press 2016-06-30 /pmc/articles/PMC4935120/ /pubmed/27418850 http://dx.doi.org/10.2147/TACG.S86420 Text en © 2016 Saleh et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. |
spellingShingle | Review Saleh, Maha Kamath, Binita M Chitayat, David Alagille syndrome: clinical perspectives |
title | Alagille syndrome: clinical perspectives |
title_full | Alagille syndrome: clinical perspectives |
title_fullStr | Alagille syndrome: clinical perspectives |
title_full_unstemmed | Alagille syndrome: clinical perspectives |
title_short | Alagille syndrome: clinical perspectives |
title_sort | alagille syndrome: clinical perspectives |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935120/ https://www.ncbi.nlm.nih.gov/pubmed/27418850 http://dx.doi.org/10.2147/TACG.S86420 |
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