Is R202 Q Polymorphism Related With Some Atypical Inflammatory Clinical Situations?

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dc.contributor.authorAkgun, Feride Sinem
dc.contributor.authorDabak, Reşat
dc.contributor.authorUygur Bayramiçli, Oya
dc.contributor.authorSezgin, Gülbüz
dc.contributor.authorNalbant, Selim
dc.contributor.authorAkduman Alaşehir, Elçin
dc.contributor.authorKaya, Fatih Öner
dc.date.accessioned2024-07-12T22:04:05Z
dc.date.available2024-07-12T22:04:05Z
dc.date.issued2019en_US
dc.description.abstractObjective: To date, especially alterations of genes on exon 10 have beenconsidered in Mediterranean fever (MEFV), but it is not clear whether all thesealterations are disease-causing mutations. This study aims to evaluate theclinical features of the patients with R202Q alteration.Materials and methods: Patients admitted to the emergency department andinternal medicine clinic and diagnosed as Familial Mediterranean Fever (FMF)were included in the study. The medical records of patients with MEFV genemutations were reviewed retrospectively.Results: Total 25 patients with R202Q mutations were obtained. 14 patientshad a classical AAA phenotype with fever and abdominal pain: 10 patients withM694V mutation, and 4 with other mutations. None of the patients with singleR202Q mutation were with the classical FMF phenotype. Patients with singleR202Q mutation showed atypical inflammatory phenotype (4 pericarditis, 1pleurisy, 1 arthritis, 1 psoriatic arthritis). On the other hand, patients withclassical FMF phenotype and with R202Q mutation were with higher colchicineneed and proteinuria.Conclusion: According to our results, R202Q mutation may create a tendencyto inflammation or augment the existing inflammation. However, prospectivecomprehensive studies are needed to further investigate the relationship ofR202Q and clinical findings and severity of the disease.en_US
dc.identifier.endpage94en_US
dc.identifier.issn2148-0990
dc.identifier.issn2148-8878
dc.identifier.issue2en_US
dc.identifier.startpage91en_US
dc.identifier.trdizinid368681en_US
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/368681
dc.identifier.urihttps://hdl.handle.net/20.500.12415/9522
dc.identifier.volume57en_US
dc.indekslendigikaynakTR-Dizin
dc.language.isoenen_US
dc.relation.ispartofEge Klinikleri Tıp Dergisien_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzKY04803
dc.titleIs R202 Q Polymorphism Related With Some Atypical Inflammatory Clinical Situations?en_US
dc.typeArticle
dspace.entity.typePublication

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