Is r202 q polymorphism related with some atypical inflammatory clinical situations?

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dc.authorid0000-0001-6537-866Xen_US
dc.authorid0000-0001-5472-7465en_US
dc.authorid0000-0002-0774-2766en_US
dc.authorid0000-0002-7710-3759en_US
dc.authorid0000-0002-2194-1294en_US
dc.authorid0000-0002-4936-3705en_US
dc.contributor.authorAkgün, Feride Sinem
dc.contributor.authorDabak, Reşat
dc.contributor.authorKaya, Fatih Öner
dc.contributor.authorSezgin, Gülbüz
dc.contributor.authorAkduman Alaşehir, Elçin
dc.contributor.authorUygur Bayramiçli, Oya
dc.contributor.authorNalbant, Selim
dc.date.accessioned2024-07-12T21:03:22Z
dc.date.available2024-07-12T21:03:22Z
dc.date.issued2019en_US
dc.departmentFakülteler, Tıp Fakültesien_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.citationAkgün, F.S., Dabak, R., Kaya, F. Ö. vd. (2019). Is r202 q polymorphism related with some atypical inflammatory clinical situations? / R 202 Q Polimor fizmibazıa tipik inflamatuar klinik durumlar ile ilişkili midir?. Ege Klinikleri Tıp Dergisi, İzmir Hastanelerine Yardım ve Bilimsel Araştırmaları Teşvik Derneği. 57(2), s. 91-94.en_US
dc.identifier.endpage94en_US
dc.identifier.issn2148-8878
dc.identifier.issue2en_US
dc.identifier.startpage91en_US
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/368681/
dc.identifier.urihttps://hdl.handle.net/20.500.12415/3664
dc.identifier.volume57en_US
dc.institutionauthorAkgün, Feride Sinem
dc.institutionauthorKaya, Fatih Öner
dc.institutionauthorSezgin, Gülbüz
dc.institutionauthorAkduman Alaşehir, Elçin
dc.institutionauthorUygur Bayramiçli, Oya
dc.institutionauthorNalbant, Selim
dc.language.isoenen_US
dc.publisherİzmir Hastanelerine Yardım ve Bilimsel Araştırmaları Teşvik Derneğien_US
dc.relation.ispartofEge Klinikleri Tıp Dergisien_US
dc.relation.publicationcategoryUlusal Hakemli Dergide Makale - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzKY00690
dc.subjectFamilial Mediterranean Feveren_US
dc.subjectInflammationen_US
dc.subjectM694en_US
dc.subjectR202Qen_US
dc.titleIs r202 q polymorphism related with some atypical inflammatory clinical situations?en_US
dc.title.alternativeR 202 Q Polimor fizmibazıa tipik inflamatuar klinik durumlar ile ilişkili midir?en_US
dc.typeArticle
dspace.entity.typePublication

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