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Homozygous C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene with hyperhomocysteinaemia associated with lupus anticoagulant in a chronic peritoneal dialysis patient with cerebral venous thrombosis- Case Report

2008Journal article Open access
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dc.contributor.authorGuimaraes, Nuno
dc.contributor.authorSilva, Sónia
dc.contributor.authorBranco, Patrícia
dc.contributor.authorAlmeida, Edgar de
dc.contributor.authorCanhão, Patrícia
dc.contributor.authorBarbas, José
dc.contributor.authorGomes da Costa, A.
dc.contributor.authorPrata, M. Martins
dc.date.accessioned2021-03-30T13:29:05Z
dc.date.available2021-03-30T13:29:05Z
dc.date.issued2008
dc.description.abstractWe report a case of a cerebral venous thrombosis (CVT) in a chronic kidney disease patient with three CVT predisposing conditions. A 53 year-old woman on chronic peritoneal dialysis presented to the emergency department with acute headache and vertigo. The neurological examination and head CT scan performed at the emergency department were normal but, three days later, a lateral gait deviation and a horizontal nystagmus were identified. A brain MRI and MRI-venogram confirmed a left lateral sinus thrombosis. Hormonal replacement therapy (HRT), a positive lupus anticoagulante and a homozygous mutation on the methylenetetrahydrofolate reductase gene, with hyperhomocysteinaemia, were the three well-known prothrombotic conditions identified in this patient. HRT was discontinued, the patient started anticoagulation with warfarin and folic acid supplementation and was discharged, 10 days after admission, complaining of a mild vertigo. After six months of therapy the patient had vertigo improvement and maintained a positive lupus anticoagulant. The head MRI and MRI-venography showed a thrombus reduction.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPort J Nephrol Hypert 2008; 22(1): 49-53pt_PT
dc.identifier.issn2183-1289
dc.identifier.urihttp://hdl.handle.net/10400.26/36048
dc.language.isoengpt_PT
dc.publisherSPN - Sociedade Portuguesa de Nefrologiapt_PT
dc.subjectcerebral venous thrombosispt_PT
dc.subjecthyperhomocysteinaemiapt_PT
dc.subjectlupus anticoagulantpt_PT
dc.subjectperitoneal dialysispt_PT
dc.subjectMadeira Islandpt_PT
dc.subjectPortugalpt_PT
dc.subjectleft lateral sinus thrombosispt_PT
dc.titleHomozygous C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene with hyperhomocysteinaemia associated with lupus anticoagulant in a chronic peritoneal dialysis patient with cerebral venous thrombosis- Case Reportpt_PT
dc.title.alternativeCase Reportpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage53pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage49pt_PT
oaire.citation.volume22pt_PT
person.familyNameGuimaraes
person.givenNameNuno
person.identifier.orcid0000-0003-0408-0581
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication275a994c-d20f-4210-9858-7f7a46c3402a
relation.isAuthorOfPublication.latestForDiscovery275a994c-d20f-4210-9858-7f7a46c3402a

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