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    Is R202 Q Polymorphism Related With Some Atypical Inflammatory Clinical Situations?
    (2019) Akgun, Feride Sinem; Dabak, Reşat; Uygur Bayramiçli, Oya; Sezgin, Gülbüz; Nalbant, Selim; Akduman Alaşehir, Elçin; Kaya, Fatih Öner
    Objective: 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.
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    Is r202 q polymorphism related with some atypical inflammatory clinical situations?
    (İzmir Hastanelerine Yardım ve Bilimsel Araştırmaları Teşvik Derneği, 2019) Akgün, Feride Sinem; Dabak, Reşat; Kaya, Fatih Öner; Sezgin, Gülbüz; Akduman Alaşehir, Elçin; Uygur Bayramiçli, Oya; Nalbant, Selim
    Objective: 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.