Distribution of mefv mutations in familial mediterranean fever patients who testing positive for COVID-19
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Abstract (EN)
Familial Mediterranean Fever (FMF) is an autoimmune disease. Although the exact mechanism of action is not known, studies have investigated the relationship of these mutations with many diseases in patients with MEFV mutations diagnosed with FMF, and significant relationships have been found. Among the variants associated with AAA, there are 9 variants with the most pathogenicity (M694V, M694I, M680I, V726A, R761H, A744S, I692del, E167D and T267I). In addition to these variants, 5 more variants whose meaning is not yet known have been defined (E148Q, K695R, P369S, F479L and I591T). Today's biggest problem, the highly contagious COVID-19, poses a great threat to human health. COVID-19 (Coronavirus - SARS-CoV-2) are enveloped, positive single-stranded large RNA viruses that infect humans as well as a wide variety of animals. The first symptom of COVID-19 was initially pneumonia. Subsequent cases have also described gastrointestinal symptoms and asymptomatic infections, particularly among young children. The severity and impact of the disease varies widely among individuals. The disease manifests itself symptomatically or asymptomatically. In symptomatic patients, clinical manifestations of the disease usually begin less than a week later, consisting of fever, cough, nasal congestion, fatigue, and other signs of upper respiratory tract infections. The infection may progress to serious illness, with dyspnea and severe chest symptoms corresponding to pneumonia in approximately 75% of patients, as seen on computed tomography at presentation. It can cause serious and permanent damage to the immune system, as well as result in death. Lymphopenia is common and inflammatory markers (C-reactive protein and proinflammatory cytokines) are elevated. High fever is one of the common symptoms between FMF patients and COVID-19. Fever may rise up to 38-40°C during an attack in FMF patients. The fever varies between an hour and 4 days. Fever may not be seen during short-term attacks in patients using colchicine. Colchicine, which is the only drug used by FMF patients, reduces the frequency and severity of attacks and has a great role in preventing the formation and accumulation of amyloidosis. It has been observed that patients diagnosed with FMF and using regular colchicine have a much milder illness when they contract COVID-19. In this study, it is aimed to reveal the relationship between AAA and COVID-19, and to emphasize the importance of diagnosis and use of colchicine for COVID-19 in FMF patients. First of all, patients who applied to Konya City Hospital and were diagnosed with FMF and control patients without MEFV variant were determined. The COVID-19 test results, colchicine usage status and demographic information of the identified patients over the age of 18 are listed. Access to this information is provided through HSYS (Public Health Management System) and HBYS systems. As the collected data, bivariate chi-square analysis and binary logistic regression analysis were performed over the SPSS program. Significant data were obtained between the distribution of MEFV variants and the COVID-19 test result. This study clearly showed us that patients with negative COVID-19 test in MEFV variants are more than positive patients, but as a result of the analysis, no significant difference was found between COVID-19 test and MEFV variants and colchicine usage status. In addition, we have observed that patients who use colchicine have fewer COVID-19 tests positive than those who do not. When the COVID-19 test results of the group without mutations and FMF patients with MEFV mutations were compared, we saw that the rate of being positive for individuals with the MEFV variant was lower. We think that the study can be improved by increasing the number of patients and questionnaires to be made with patients, and data that will contribute to the literature will be obtained.
Author
Tuğba Tekeli
How to Cite
Tuğba Tekeli (Master Thesis). Distribution of mefv mutations in familial mediterranean fever patients who testing positive for COVID-19, 2023, Necmettin Erbakan University.
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