Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update

Autores
Bay, Maria Luisa; Cañero Velasco, Cristina; Ciocca, Mirta; Cotti, Andrea; Cuarterolo, Miriam; Fainboim, Alejandro; Fassio, Eduardo; Galoppo, Marcela; Piñero, Federico; Rozenfeld, Paula Adriana
Año de publicación
2017
Idioma
español castellano
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significantmorbidity and mortality in children and adults.This document provides guidance on whento suspect LAL-D and how to diagnose it. Itis recommended to add lysosomal acid lipasedeficiency to the list of differential diagnoses ofsepsis, oncological diseases, storage diseases,persistent diarrhea, chronic malnutrition, andhemophagocytic lymphohistiocytosis. It shouldalso be considered in young patients withdyslipidemia and atherosclerosis as well as diseasesassociated with fatty liver and/or hepatomegaly.LAL-D should be suspected in patients withhepatomegaly, hyperlipidemia and/or elevatedtransaminases found during routine checks ortesting for other conditions, and in patientswith cryptogenic cirrhosis. At present, thereis the option of a specific enzyme replacementtreatment.
Fil: Bay, Maria Luisa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Cañero Velasco, Cristina. Hospital de Niños de San Justo; Argentina
Fil: Ciocca, Mirta. Hospital Alemán; Argentina
Fil: Cotti, Andrea. Hospital Universitario Austral; Argentina
Fil: Cuarterolo, Miriam. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Fainboim, Alejandro. Hospital de Niños Ricardo Gutiérrez; Argentina
Fil: Fassio, Eduardo. Hospital Nacional Prof. Alejandro Posadas; Argentina
Fil: Galoppo, Marcela. Hospital de Niños Ricardo Gutiérrez; Argentina
Fil: Piñero, Federico. Hospital Universitario Austral; Argentina
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Materia
Chyrrosis
Dyslipidemias
Wolman Disease
Non Alcoholic Fatty Liver Disease
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/51656
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/51656
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An updateBay, Maria LuisaCañero Velasco, CristinaCiocca, MirtaCotti, AndreaCuarterolo, MiriamFainboim, AlejandroFassio, EduardoGaloppo, MarcelaPiñero, FedericoRozenfeld, Paula AdrianaChyrrosisDyslipidemiasWolman DiseaseNon Alcoholic Fatty Liver Diseasehttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significantmorbidity and mortality in children and adults.This document provides guidance on whento suspect LAL-D and how to diagnose it. Itis recommended to add lysosomal acid lipasedeficiency to the list of differential diagnoses ofsepsis, oncological diseases, storage diseases,persistent diarrhea, chronic malnutrition, andhemophagocytic lymphohistiocytosis. It shouldalso be considered in young patients withdyslipidemia and atherosclerosis as well as diseasesassociated with fatty liver and/or hepatomegaly.LAL-D should be suspected in patients withhepatomegaly, hyperlipidemia and/or elevatedtransaminases found during routine checks ortesting for other conditions, and in patientswith cryptogenic cirrhosis. At present, thereis the option of a specific enzyme replacementtreatment.Fil: Bay, Maria Luisa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Cañero Velasco, Cristina. Hospital de Niños de San Justo; ArgentinaFil: Ciocca, Mirta. Hospital Alemán; ArgentinaFil: Cotti, Andrea. Hospital Universitario Austral; ArgentinaFil: Cuarterolo, Miriam. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Fainboim, Alejandro. Hospital de Niños Ricardo Gutiérrez; ArgentinaFil: Fassio, Eduardo. Hospital Nacional Prof. Alejandro Posadas; ArgentinaFil: Galoppo, Marcela. Hospital de Niños Ricardo Gutiérrez; ArgentinaFil: Piñero, Federico. Hospital Universitario Austral; ArgentinaFil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaSociedad Argentina de Pediatría2017-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/51656Bay, Maria Luisa; Cañero Velasco, Cristina; Ciocca, Mirta; Cotti, Andrea; Cuarterolo, Miriam; et al.; Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update; Sociedad Argentina de Pediatría; Archivos Argentinos de Pediatría; 115; 3; 6-2017; 287-2930325-00751668-3501CONICET DigitalCONICETspainfo:eu-repo/semantics/altIdentifier/url/http://www.sap.org.ar/docs/publicaciones/archivosarg/2017/v115n3a14e.pdfinfo:eu-repo/semantics/altIdentifier/doi/10.5546/aap.2017.eng.287info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:35:06Zoai:ri.conicet.gov.ar:11336/51656instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:35:06.267CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
spellingShingle Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
Bay, Maria Luisa
Chyrrosis
Dyslipidemias
Wolman Disease
Non Alcoholic Fatty Liver Disease
title_short Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title_full Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title_fullStr Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title_full_unstemmed Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title_sort Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
dc.creator.none.fl_str_mv Bay, Maria Luisa
Cañero Velasco, Cristina
Ciocca, Mirta
Cotti, Andrea
Cuarterolo, Miriam
Fainboim, Alejandro
Fassio, Eduardo
Galoppo, Marcela
Piñero, Federico
Rozenfeld, Paula Adriana
author Bay, Maria Luisa
author_facet Bay, Maria Luisa
Cañero Velasco, Cristina
Ciocca, Mirta
Cotti, Andrea
Cuarterolo, Miriam
Fainboim, Alejandro
Fassio, Eduardo
Galoppo, Marcela
Piñero, Federico
Rozenfeld, Paula Adriana
author_role author
author2 Cañero Velasco, Cristina
Ciocca, Mirta
Cotti, Andrea
Cuarterolo, Miriam
Fainboim, Alejandro
Fassio, Eduardo
Galoppo, Marcela
Piñero, Federico
Rozenfeld, Paula Adriana
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Chyrrosis
Dyslipidemias
Wolman Disease
Non Alcoholic Fatty Liver Disease
topic Chyrrosis
Dyslipidemias
Wolman Disease
Non Alcoholic Fatty Liver Disease
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significantmorbidity and mortality in children and adults.This document provides guidance on whento suspect LAL-D and how to diagnose it. Itis recommended to add lysosomal acid lipasedeficiency to the list of differential diagnoses ofsepsis, oncological diseases, storage diseases,persistent diarrhea, chronic malnutrition, andhemophagocytic lymphohistiocytosis. It shouldalso be considered in young patients withdyslipidemia and atherosclerosis as well as diseasesassociated with fatty liver and/or hepatomegaly.LAL-D should be suspected in patients withhepatomegaly, hyperlipidemia and/or elevatedtransaminases found during routine checks ortesting for other conditions, and in patientswith cryptogenic cirrhosis. At present, thereis the option of a specific enzyme replacementtreatment.
Fil: Bay, Maria Luisa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Cañero Velasco, Cristina. Hospital de Niños de San Justo; Argentina
Fil: Ciocca, Mirta. Hospital Alemán; Argentina
Fil: Cotti, Andrea. Hospital Universitario Austral; Argentina
Fil: Cuarterolo, Miriam. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Fainboim, Alejandro. Hospital de Niños Ricardo Gutiérrez; Argentina
Fil: Fassio, Eduardo. Hospital Nacional Prof. Alejandro Posadas; Argentina
Fil: Galoppo, Marcela. Hospital de Niños Ricardo Gutiérrez; Argentina
Fil: Piñero, Federico. Hospital Universitario Austral; Argentina
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
description Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significantmorbidity and mortality in children and adults.This document provides guidance on whento suspect LAL-D and how to diagnose it. Itis recommended to add lysosomal acid lipasedeficiency to the list of differential diagnoses ofsepsis, oncological diseases, storage diseases,persistent diarrhea, chronic malnutrition, andhemophagocytic lymphohistiocytosis. It shouldalso be considered in young patients withdyslipidemia and atherosclerosis as well as diseasesassociated with fatty liver and/or hepatomegaly.LAL-D should be suspected in patients withhepatomegaly, hyperlipidemia and/or elevatedtransaminases found during routine checks ortesting for other conditions, and in patientswith cryptogenic cirrhosis. At present, thereis the option of a specific enzyme replacementtreatment.
publishDate 2017
dc.date.none.fl_str_mv 2017-06
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/51656
Bay, Maria Luisa; Cañero Velasco, Cristina; Ciocca, Mirta; Cotti, Andrea; Cuarterolo, Miriam; et al.; Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update; Sociedad Argentina de Pediatría; Archivos Argentinos de Pediatría; 115; 3; 6-2017; 287-293
0325-0075
1668-3501
CONICET Digital
CONICET
url http://hdl.handle.net/11336/51656
identifier_str_mv Bay, Maria Luisa; Cañero Velasco, Cristina; Ciocca, Mirta; Cotti, Andrea; Cuarterolo, Miriam; et al.; Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update; Sociedad Argentina de Pediatría; Archivos Argentinos de Pediatría; 115; 3; 6-2017; 287-293
0325-0075
1668-3501
CONICET Digital
CONICET
dc.language.none.fl_str_mv spa
language spa
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.sap.org.ar/docs/publicaciones/archivosarg/2017/v115n3a14e.pdf
info:eu-repo/semantics/altIdentifier/doi/10.5546/aap.2017.eng.287
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Sociedad Argentina de Pediatría
publisher.none.fl_str_mv Sociedad Argentina de Pediatría
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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