Familial mediterranean fever with pulmonary manifestations alone; early diagnosis with genetic analysis [Yalni{dotless}z pulmoner bulgulari{dotless} olan ailesel Akdeniz ateşi; genetik analizle erken tani{dotless}]

Basit Öğe Kaydı
dc.contributor.authorSever F.
dc.contributor.authorSever M.
dc.contributor.authorSanal S.
dc.contributor.authorYalçin M.
dc.contributor.authorBerdeli A.
dc.date.accessioned2019-10-26T21:55:07Z
dc.date.available2019-10-26T21:55:07Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractPainful pleural effusion and fever are the only presenting clinical features in 5-10% of patients with familial Mediterranean fever (FMF). We report the results of genetic analysis that have confirmed the diagnosis of FMF in six patients who presented with fever and pleuritic pain alone. At time of presentation, all six patients received antibiotic treatment for suspected infectious etiology following routine laboratory and microbiologic evaluation. Gene analysis was performed when other diagnostic studies had failed to uncover the etiology and patients did not respond to conventional treatment. Mutation analysis for MEFV gene performed from genomic DNA by the direct DNA sequence method. Half of the patients were male. Five were older than 50, one was 33 years old. All of the patients had fever and pleuritic pain; none had the typical abdominal symptoms. Erythrocyte sedimentation rates and C-reactive protein levels were high. Pericardial effusion was discovered in three patients. Genetic analysis confirmed; R202Q/R202R, E148V/E148E, R314R, E474E, Q476Q, D510D, E148Q/E148E heterozygote polymorphisms with and M694V/M694V mutations were determined on the MEFV gene. In five patients an improvement has been observed with colchicine therapy. In one patient steroid treatment was needed because of no response to colchicine and clinical deterioration. Rapid improvement was observed in this case with steroid therapy. But after cessation of steroid therapy new flare developed that responded to new colchicine therapy. In patients who present with pleuritic chest pain and fever without an identifiable etiology, genetic analysis help making the diagnosis of FMF, especially in certain ethnic populations where FMF is relevant. This should help patients receive specific treatment without unnecessary delay. Thus, by making early diagnosis and timely delivery of treatment, disease progression is delayed and development of secondary amyloidosis avoided.en_US
dc.identifier.doi10.5578/tt.1445en_US
dc.identifier.endpage384en_US
dc.identifier.issn0494-1373
dc.identifier.issue4en_US
dc.identifier.pmid23289470en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage380en_US
dc.identifier.urihttps://doi.org/10.5578/tt.1445
dc.identifier.urihttps://hdl.handle.net/11454/18968
dc.identifier.volume60en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAnkara Universityen_US
dc.relation.ispartofTuberkuloz ve Toraksen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFamilial mediterranean feveren_US
dc.subjectGenetic analysisen_US
dc.subjectPulmonary manifestationsen_US
dc.titleFamilial mediterranean fever with pulmonary manifestations alone; early diagnosis with genetic analysis [Yalni{dotless}z pulmoner bulgulari{dotless} olan ailesel Akdeniz ateşi; genetik analizle erken tani{dotless}]en_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

Scopus İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu