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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | |
dc.contributor.author | CUNHA-SILVA, Marlone | |
dc.contributor.author | MAZO, Daniel F. C. | |
dc.contributor.author | CORREA, Barbara R. | |
dc.contributor.author | LOPES, Tirzah M. | |
dc.contributor.author | ARRELARO, Raquel C. | |
dc.contributor.author | FERREIRA, Gabriel L. | |
dc.contributor.author | I, Marcello Rabello | |
dc.contributor.author | SEVA-PEREIRA, Tiago | |
dc.contributor.author | ESCANHOELA, Cecilia A. F. | |
dc.contributor.author | ALMEIDA, Jazon R. S. | |
dc.date.accessioned | 2019-05-30T13:45:21Z | |
dc.date.available | 2019-05-30T13:45:21Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | ANNALS OF HEPATOLOGY, v.18, n.1, p.230-235, 2019 | |
dc.identifier.issn | 1665-2681 | |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/31927 | |
dc.description.abstract | Lysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications. Lack of awareness on diagnosis of this condition may hamper specific treatment, which consists on enzymatic replacement. It may prevent the progression of liver disease and its complications. We describe the case of a 53-year-old Brazilian man who was referred to our center due to the diagnosis of liver cirrhosis of unknown etiology. He was asymptomatic and had normal body mass index. He had dyslipidemia, and family history of myocardial infarction and stroke. Abdominal imaging tests showed liver cirrhosis features and the presence of intrahepatic calcifications. Initial investigation of the etiology of the liver disease was not elucidated, but liver biopsy showed microgoticular steatosis and cholesterol esters deposits in Kuppfer cells. The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c. 386A > G homozygous p. H129R). | eng |
dc.language.iso | eng | |
dc.publisher | MEXICAN ASSOC HEPATOLOGY | eng |
dc.relation.ispartof | Annals of Hepatology | |
dc.rights | restrictedAccess | eng |
dc.subject | Cholesterol ester storage disease | eng |
dc.subject | Intrahepatic calcifications | eng |
dc.subject | Liver steatosis | eng |
dc.subject | Sebelipase alfa | eng |
dc.subject | Enzyme replacement | eng |
dc.subject.other | stem-cell transplantation | eng |
dc.subject.other | ester storage disease | eng |
dc.subject.other | sebelipase alpha | eng |
dc.subject.other | wolmans-disease | eng |
dc.subject.other | dyslipidemia | eng |
dc.title | Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation | eng |
dc.type | article | eng |
dc.rights.holder | Copyright MEXICAN ASSOC HEPATOLOGY | eng |
dc.identifier.doi | 10.5604/01.3001.0012.7930 | |
dc.identifier.pmid | 30596605 | |
dc.subject.wos | Gastroenterology & Hepatology | eng |
dc.type.category | original article | eng |
dc.type.version | publishedVersion | eng |
hcfmusp.author.external | CUNHA-SILVA, Marlone:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil | |
hcfmusp.author.external | CORREA, Barbara R.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil | |
hcfmusp.author.external | LOPES, Tirzah M.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil | |
hcfmusp.author.external | ARRELARO, Raquel C.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil | |
hcfmusp.author.external | FERREIRA, Gabriel L.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil | |
hcfmusp.author.external | I, Marcello Rabello:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil | |
hcfmusp.author.external | SEVA-PEREIRA, Tiago:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil | |
hcfmusp.author.external | ESCANHOELA, Cecilia A. F.:Univ Campinas UNICAMP, Sch Med Sci, Dept Pathol, Campinas, SP, Brazil | |
hcfmusp.author.external | ALMEIDA, Jazon R. S.:Univ Campinas UNICAMP, Sch Med Sci, Dept Gastroenterol, Brazil Rua Carlos Chagas 420,Cidade Univ, BR-13083878 Campinas, SP, Brazil | |
hcfmusp.description.beginpage | 230 | |
hcfmusp.description.endpage | 235 | |
hcfmusp.description.issue | 1 | |
hcfmusp.description.volume | 18 | |
hcfmusp.origem | WOS | |
hcfmusp.origem.id | WOS:000460750900030 | |
hcfmusp.origem.id | 2-s2.0-85059280799 | |
hcfmusp.publisher.city | MEXICO | eng |
hcfmusp.publisher.country | MEXICO | eng |
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dc.description.index | MEDLINE | eng |
hcfmusp.citation.scopus | 5 | - |
hcfmusp.scopus.lastupdate | 2024-03-29 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - ODS/03 |
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