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

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

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dc.contributor.author Bay, Luisa.
dc.contributor.author Cañero Velasco, Cristina.
dc.contributor.author Ciocca, Mirta.
dc.contributor.author Cotti, Andrea.
dc.contributor.author Cuarterolo, Miriam.
dc.contributor.author Fainboim, Alejandro.
dc.contributor.author Piñero, Federico.
dc.contributor.author et al.
dc.date.accessioned 2020-03-06T18:19:03Z
dc.date.available 2020-03-06T18:19:03Z
dc.date.issued 2017-06-01
dc.identifier.citation Arch Argent Pediatr. 2017 Jun 1;115(3):287-293 en_US
dc.identifier.issn 0325-0075
dc.identifier.uri https://riu.austral.edu.ar/handle/123456789/862
dc.description.abstract Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and /or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment. en_US
dc.language.iso en en_US
dc.publisher Sociedad Argentina de Pediatría. en_US
dc.subject Wolman disease en_US
dc.subject Cirrhosis en_US
dc.subject Dyslipidemias en_US
dc.subject Lysosomal acid lipase deficiency en_US
dc.subject Non-alcoholic fatty liver disease en_US
dc.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. en_US
dc.type Article en_US


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