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dc.contributor.author
Frider, Bernardo
dc.contributor.author
Castillo, Amalia Inés
dc.contributor.author
Gordo Gilart, Raquel
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Bruno, Andres
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Amante, Marcelo
dc.contributor.author
Alvarez, Luis
dc.contributor.author
Mathet, Veronica Lidia
dc.date.available
2018-03-14T19:26:16Z
dc.date.issued
2015-10
dc.identifier.citation
Frider, Bernardo; Castillo, Amalia Inés; Gordo Gilart, Raquel; Bruno, Andres; Amante, Marcelo; et al.; Reversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3; Mexican Association of Hepatology; Annals of Hepatology; 14; 5; 10-2015; 745-751
dc.identifier.issn
1665-2681
dc.identifier.uri
http://hdl.handle.net/11336/38782
dc.description.abstract
Introduction. Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a severe liver disorder associated with inherited dysfunction of multidrug resistance protein 3 (MDR3/ABCB4), which functions as a phospholipid floppase, translocating phosphatidylcholine from the inner to the outer hemileaflet of the canalicular membrane of hepatocytes. MDR3 deficiency results in a disbalanced bile which may damage the luminal membrane of cells of the hepatobiliary system. We evaluated clinical, biochemical and histological improvement in a genetically proven PFIC-3 patient after long-term ursodeoxycholic acid (UDCA) administration. Material and methods. A PFIC-3 patient and a relative with cholestatic liver disease were studied. Hepatic MDR3 expression was analyzed by immunohistochemistry and ABCB4 mutations were identified. The effect of the mutations on MDR3 expression and subcellular localization was studied in vitro. Results. A 23-year-old man presented cholestasis with severe fibrosis and incomplete cirrhosis. Canalicular staining for MDR3 was faint. Sequence analysis of ABCB4 revealed two missense mutations that reduce drastically protein expression levels. After 9 years of treatment with UDCA disappearance of fibrosis and cirrhosis was achieved. Conclusion. These data indicate that fibrosis associated with MDR3 deficiency can be reversed by long-term treatment with UDCA, at least when there is residual expression of the protein.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Mexican Association of Hepatology
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Pfic-3
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Abcb4
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Cholestasis
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Genética Humana
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Reversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-03-13T18:14:04Z
dc.journal.volume
14
dc.journal.number
5
dc.journal.pagination
745-751
dc.journal.pais
México
dc.description.fil
Fil: Frider, Bernardo. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; Argentina
dc.description.fil
Fil: Castillo, Amalia Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones en Microbiología y Parasitología Médica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en Microbiología y Parasitología Médica; Argentina
dc.description.fil
Fil: Gordo Gilart, Raquel. Hospital Universitario La Paz; España
dc.description.fil
Fil: Bruno, Andres. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; Argentina
dc.description.fil
Fil: Amante, Marcelo. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; Argentina
dc.description.fil
Fil: Alvarez, Luis. Hospital Universitario La Paz; España
dc.description.fil
Fil: Mathet, Veronica Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones en Microbiología y Parasitología Médica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en Microbiología y Parasitología Médica; Argentina
dc.journal.title
Annals of Hepatology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://annalsofhepatology.publisherspanel.com/resources/html/article/details?id=127509&language=en
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