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A complex case of low-phospholipid-associated cholelithiasis syndrome.
dc.contributor.author | Figueiredo, LM | |
dc.contributor.author | Lourenço, L | |
dc.contributor.author | Horta, D | |
dc.contributor.author | Martins, A | |
dc.date.accessioned | 2020-06-29T15:40:56Z | |
dc.date.available | 2020-06-29T15:40:56Z | |
dc.date.issued | 2020 | |
dc.description.abstract | The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic and recurring cholelithiasis occurring in young adults, associated with mutations in the ABCB4 gene. It is a clinical syndrome characterized by at least two of the following criteria: age at onset of biliary symptoms below 40 years, intrahepatic echogenic foci or microlithiasis and recurrence of biliary symptoms after cholecystectomy. In the rare cases progressing to end-stage liver disease, a liver transplant may be indicated. We report a case of a 40-year-old female patient with clinical criteria for LPAC syndrome and with ABCB4 gene mutation. She had a complex history of choledocholithiasis recurrence despite treatment with ursodeoxycholic acid and multiple therapeutic endoscopic retrograde cholangiopancreatography, and she developed portal vein thrombosis. | pt_PT |
dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
dc.identifier.citation | Rev Esp Enferm Dig. 2020 Jun 16;112. [Epub ahead of print] | pt_PT |
dc.identifier.doi | 10.17235/reed.2020.6625/2019 | pt_PT |
dc.identifier.issn | 1130-0108 | |
dc.identifier.uri | http://hdl.handle.net/10400.10/2426 | |
dc.language.iso | eng | pt_PT |
dc.peerreviewed | yes | pt_PT |
dc.publisher | Aran Ediciones | pt_PT |
dc.subject | Cholelithiasis | pt_PT |
dc.subject | Phospholipids | pt_PT |
dc.title | A complex case of low-phospholipid-associated cholelithiasis syndrome. | pt_PT |
dc.type | journal article | |
dspace.entity.type | Publication | |
oaire.citation.conferencePlace | Madrid | pt_PT |
oaire.citation.title | Revista española de enfermedades digestivas : organo oficial de la Sociedad Española de Patología Digestiva. | pt_PT |
rcaap.rights | openAccess | pt_PT |
rcaap.type | article | pt_PT |
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