AI Summary & Key Takeaways
AI InsightHowever, prospective comprehensive studies are needed to further investigate the relationship of R202Q and clinical findings and severity of the disease.
📌 3 Key Takeaways
Özet
Objective: To date, especially alterations of genes on exon 10 have been considered in Mediterranean fever (MEFV), but it is not clear whether all these alterations are disease-causing mutations. This study aims to evaluate the clinical features of the patients with R202Q alteration. Materials and methods: Patients admitted to the emergency department and internal medicine clinic and diagnosed as Familial Mediterranean Fever (FMF) were included in the study. The medical records of patients with MEFV gene mutations were reviewed retrospectively. Results: Total 25 patients with R202Q mutations were obtained. 14 patients had a classical AAA phenotype with fever and abdominal pain: 10 patients with M694V mutation, and 4 with other mutations. None of the patients with single R202Q mutation were with the classical FMF phenotype. Patients with single R202Q mutation showed atypical inflammatory phenotype (4 pericarditis, 1 pleurisy, 1 arthritis, 1 psoriatic arthritis). On the other hand, patients with classical FMF phenotype and with R202Q mutation were with higher colchicine need and proteinuria. Conclusion: According to our results, R202Q mutation may create a tendency to inflammation or augment the existing inflammation. However, prospective comprehensive studies are needed to further investigate the relationship of R202Q and clinical findings and severity of the disease.