Publication
Non-alcoholic fatty liver disease associated with hypobetalipoproteinemia: report of three cases and a novel mutation in APOB gene
| dc.contributor.author | Rodrigues, Joana | |
| dc.contributor.author | Azevedo, Ana | |
| dc.contributor.author | Tavares, Susana | |
| dc.contributor.author | Rocha, Cristina | |
| dc.contributor.author | Silva, Ermelinda Santos | |
| dc.date.accessioned | 2016-06-28T15:57:35Z | |
| dc.date.available | 2016-06-28T15:57:35Z | |
| dc.date.issued | 2016-06 | |
| dc.description.abstract | Background: Non-alcoholic fatty liver disease, the leading cause of chronic liver disease in children, is defined by hepatic fat infiltration >5% of hepatocytes, in the absence of excessive alcohol intake, evidence of viral, autoimmune or drug-induced liver disease. Conditions like rare genetic disorders must be considered in the differential diagnosis. Case Report: Two male brothers, and a non-related girl, all overweight, had liver steatosis. One of the brothers and the girl had elevated transaminases; all three presented with low total cholesterol, low density lipoproteins and very low density lipoproteins cholesterol levels, hypotriglyceridemia and low apolipoprotein B. A liver biopsy performed in the brother with citolysis confirmed steatohepatitis and the molecular study of apolipoprotein B gene showed a novel homozygous mutation (c.9353dup p.Asn3118Lysfs17). Patients with cytolysis lost weight, however liver steatosis persists. Conclusion: Fatty liver disease might be a consequence of hypobetalipoproteinemia. Evidence is scarce due to low number of reported cases. | pt_PT |
| dc.identifier.citation | Nascer e Crescer 2016; 25(2): 104-7 | pt_PT |
| dc.identifier.issn | 0872-0754 | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/1949 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Centro Hospitalar do Porto | pt_PT |
| dc.relation.ispartofseries | 2; | |
| dc.subject | Gene APOB | pt_PT |
| dc.subject | Criança | pt_PT |
| dc.subject | Hipobetalipoproteinemia familiar | pt_PT |
| dc.subject | Fígado gordo não alcoólico | pt_PT |
| dc.subject | Esteatohepatite não alcoólica | pt_PT |
| dc.title | Non-alcoholic fatty liver disease associated with hypobetalipoproteinemia: report of three cases and a novel mutation in APOB gene | pt_PT |
| dc.title.alternative | FÍGADO GORDO NÃO-ALCOÓLICO ASSOCIADO A HIPOBETALIPOPROTEINEMIA: APRESENTAÇÃO DE TRÊS CASOS CLÍNICOS E DE UMA NOVA MUTAÇÃO NO GENE APOB | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Porto | pt_PT |
| oaire.citation.endPage | 107 | pt_PT |
| oaire.citation.startPage | 104 | pt_PT |
| oaire.citation.title | Revista Nascer e Crescer | pt_PT |
| oaire.citation.volume | XXV | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |