COVİD-19 testi pozitif çıkan Ailevi Akdeniz Ateşi hastalarında MEFV gen mutasyonlarının dağılımı
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Dosyalar
Tarih
2023
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Necmettin Erbakan Üniversitesi Sağlık Bilimleri Enstitüsü
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Ailevi Akdeniz Ateşi (AAA) otoimmün bir hastalıktır. Tam olarak etki mekanizması bilinmemekle birlikte yapılan çalışmalarda AAA tanısı konmuş MEFV mutasyonlarına sahip hastalarda bu mustayonların birçok hastalık ile ilişkisi araştırılmış ve anlamlı ilişkiler bulunmuştur. AAA ile ilişkilendirilen varyantlar arasında patojenitesi en belirgin olan 9 varyant (M694V, M694I, M680I, V726A, R761H, A744S, I692del, E167D ve T267I) vardır. Bu varyantlara ilave olarak anlamı henüz tam olarak bilinmeyen 5 varyant daha tanımlanmıştır (E148Q, K695R, P369S, F479L ve I591T).Günümüzün en büyük problemi olan bulaşıcılığı yüksek COVID-19 insan sağlığı üzerinde büyük bir tehdit oluşturmaktadır. COVID-19 (Koronavirüs - SARS-CoV-2) insanları ve aynı zamanda çok çeşitli hayvanları enfekte eden zarflı, pozitif tek sarmallı büyük RNA virüsleridir. COVID-19 'un ilk belirtisi başlarda pnömoniydi. Sonraki görülen vakalarda ayrıca özellikle küçük çocuklar arasında gastrointestinal semptomlar ve asemptomatik enfeksiyonlar tanımlanmıştır. Hastalığın şiddeti ve etkisi bireyler arasında çok farklılık göstermektedir. Hastalık kendini semptomatik ya da asemptomatik olarak gösterir. Semptomatik hastalarda ateş, öksürük, burun tıkanıklığı, yorgunluk ve üst solunum yolu enfeksiyonlarının diğer belirtilerinden oluşan hastalığın klinik belirtileri genellikle bir haftadan kısa bir süre sonra başlar. Enfeksiyon, başvuru sırasında bilgisayarlı tomografide görüldüğü gibi, hastaların yaklaşık %75'inde pnömoniye karşılık gelen nefes darlığı ve şiddetli göğüs semptomları ile ciddi hastalığa ilerleyebilir. Bağışıklık sistemi üzerinde ciddi ve kalıcı hasarlar bırakabileceği gibi ölümle de sonuçlanabilmektedir. Lenfopeni yaygın görülmektedir ve inflamatuar belirteçler (C-reaktif protein ve proinflamatuar sitokinler) yükselmektedir. AAA hastaları ile COVID-19 arasındaki ortak semptomların başında yüksek ateş gelir. AAA hastalarında atak sırasında ateş 38-40°C'ye kadar çıkabilir. Ateş bir saat ile 4 gün arasında yüksekliği değişkenlik gösterir. Kolşisin kullanan hastalarda kısa süreli ataklar sırasında ateş görülmeyebilir. AAA hastalarının kullandığı tek ilaç olan kolşisin atakların sıklığını ve şiddetini azaltmakla birlikte amiloidoz oluşumunu ve birikimini engellemede de büyük bir role sahiptir. AAA tanısı konmuş ve düzenli kolşisin kullanan hastaların COVID-19'a yakalandıklarında hastalığı çok daha hafif geçirdikleri gözlemlenmiştir. Bu çalışmada AAA - COVID-19 ilişkisinin ortaya konması, AAA hastalarında tanı ve kolşisin kullanımının COVID-19 için öneminin vurgulanması hedeflenmiştir. Öncelikle Konya Şehir Hastanesi'ne başvuran ve AAA tanısı konmuş hastalar ve MEFV varyantı bulunmayan kontrol hastaları belirlenmiştir. Belirlenen hastalardan 18 yaş üstü olanların COVID-19 testi sonuçları, kolşisin kullanma durumları ve demografik bilgileri listelenmiştir. Bu bilgilere HSYS (Halk Sağlığı Yönetim Sistemi) ve HBYS sistemleri üzerinden erişim sağlanmıştır. Toplanan veriler olarak SPSS programı üzerinden iki değişkenli ki-kare analizi ve ikili lojistik regresyon analizi yapılmıştır.MEFV varyantlarının dağılımı ve COVID-19 test sonucu arasında önemli veriler elde edilmiştir. Bu çalışma bize MEFV varyantlarındaki COVID-19 testi negatif çıkan hastaların pozitif çıkan hastalara göre daha fazla olduğunu açıkça göstermiştir ama yapılan analizler sonucunda, COVID-19 testi ile MEFV varyantları ve kolşisin kullanım durumu üzerinde anlamlı bir farklılık bulunamamıştır. Ayrıca kolşisin kullanan hastalarda da kullanmayanlara göre daha az COVID-19 testinin pozitif çıktığını gözlemlemiş olduk. Mutasyonsuz bireyler ile AAA hastası bireylerin COVID-19 test sonuçları karşılaştırıldığında ise MEFV varyantına sahip bireylerin pozitif çıkma oranının daha düşük olduğunu görmüş olduk. Hasta sayısının arttırılmasıyla ve hastalarla yapılacak anketlerle birlikte çalışmanın geliştirilebileceğini, litaratüre katkı sağlayacak veriler elde edileceğini düşünmekteyiz.
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.
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.
Açıklama
Yüksek Lisans Tezi
Anahtar Kelimeler
AAA, COVID-19, Kolşisin, MEFV, FMF, COVID-19, Colchicine
Kaynak
WoS Q Değeri
Scopus Q Değeri
Cilt
Sayı
Künye
Tekeli, T. (2023). COVİD-19 testi pozitif çıkan Ailevi Akdeniz Ateşi hastalarında MEFV gen mutasyonlarının dağılımı. (Yayımlanmamış yüksek lisans tezi). Necmettin Erbakan Üniversitesi, Sağlık Bilimleri Enstitüsü Tıbbi Biyoloji Anabilim Dalı, Konya.
