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AMAÇ: Ailesel Akdeniz Ateşi (AAA), tekrarlayan, çoğu kez ateş yüksekliğinin eşlik ettiği periton, sinovya, plevra ve nadiren de perikardın tutulduğu ve kendi kendine iyileşen akut inflamasyon atakları ile ortaya çıkan otozomal resesif geçişli bir hastalıktır. Bu çalışmada Afyonkarahisar Sağlık Bilimleri Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları polikliniğinde izlenen AAA’li çocukların demografik, klinik ve laboratuvar bulgularını değerlendirmek, genotip dağılımlarını ve genotip-fenotip ilişkilerini incelemek, bölgesel farklılık olup olmadığına bakmak, bu konuda bölgedeki hekimleri bilgilendirerek AAA’li hastaların daha kolay ve geç kalmadan tanımlanmasını sağlamak ve bölgede AAA’ne bağlı morbidite ve mortaliteyi azaltmak amaçlanmıştır. GEREÇ VE YÖNTEM: Bu çalışmaya kliniğimize başvuran, Ailesel Akdeniz Ateşi tanısı alan 100 hasta alındı. Hastaların retrospektif olarak demografik, klinik, laboratuvar ve genetik bulguları incelendi ve genotip-fenotip ilişkisi araştırıldı. BULGULAR: Hastaların kız/erkek oranı 1.5/1 olarak bulundu. Hastaların çalışmaya alındıkları sıradaki yaş ortalaması 10.74±4.06 yıl idi. Hastaların %33’ünde anne-babaları arasında akrabalık vardı. En sık görülen klinik bulgular ateş (%88), karın ağrısı (%84), eklem ağrısı (%77), myalji (%45), baş ağrısı (%42), artrit (%36), göğüs ağrısı (%33) olarak saptandı. En sık saptanan mutasyon homozigot M694V mutasyonu olup bunu sırasıyla heterozigot M694V, birleşik heterozigot M694V/M680I, birleşik heterozigot M694V/M694I, birleşik heterozigot M694V/V726A, homozigot V726A, homozigot M680I, heterozigot E148Q, birleşik heterozigot M694V/E148Q mutasyonları izledi. SONUÇ: AAA heterojen bir hastalık grubu olup, hastalığın şiddeti ve seyri değişkenlik gösterebilmektedir. Sonuçlarımız genel olarak ülkemizde ve yurt dışında yapılan çalışmalarla benzerlik göstermektedir. Tanısı ön planda klinik olarak konulan ancak şüpheli durumlarda genetik olarak desteklenmesi gereken bu hastalık konusunda hekimlerin geliştirilmiş eğitim programları ile bilinçlendirilmesi gerekmektedir.
Family Mediterranean Fever (AAA) is a recurrent, often accompanied by fever height, periton, sinovia, plevra and rarely pericard, which occurs with acute inflammatory attacks that self-heal. In this study, the aim is to evaluate the demographic, clinical and laboratory findings of children with AAA monitored in the Children's Health and Diseases Clinic of the University of Afyonkarahisar Health Sciences, to study genotype distribution and genotype-fenotype relationships, to see whether there are regional differences, to inform the doctors in the area about this, to ensure that patients with AAA are easier and less late to be identified, and to reduce the morbidity and mortality associated with AAA in the area. NEED AND METHOD: 100 patients who have been diagnosed with family Mediterranean fire in our clinic to apply for this study have been taken. The demographic, clinical, laboratory and genetic findings of patients were studied retrospectively and the genotype-fenotype relationship was studied. The ratio of female/male patients was 1.5/1 The average age of the following patients were 10.74±4.06 years. 33% of the patients had relatives among their parents. The most common clinical findings were fever (88%), stomach pain (84%), joint pain (77%), myalgia (45%), headache (42%), arthritis (36%) and chest pain (33%). The most frequently detected mutation is the M694V homozigot mutation, followed by the M694V heterozigot, M694V/M680I unit heterozigot, M694V/M694I unit heterozigot, M694V/V726A unit heterozigot, V726A homozigot, M680I homozigot, E148Q heterozigot, M694V/E148Q unit heterozigot mutations. The AAA is a heterogeneous group of diseases, which can show a variation in severity and course of the disease. Our results are generally similar to work done in our country and abroad. The diagnosis is clinically placed in the forefront, but in suspicious cases it is necessary to inform the doctors about this disease with developed training programs.
OBJECTIVE: Familial Mediterranean Fever (FMF) is an autosomal recessive disease that occurs with recurrent episodes of self-healing acute inflammatory attacks of peritoneum, synovia, pleura, and rarely pericardium, often accompanied by a high grade fever. In this study, we evaluated the demographic, clinical and laboratory findings of children with FMF, who were followed up in Afyonkarahisar Health Sciences University Faculty of Medicine Child Health and Diseases outpatient clinic in order to examine the genotype distributions, genotype-phenotype relationships, and to investigate the presence of regional difference, it was aimed to inform the physicians in the region about the disease in more details providing the diagnosis without delay and to reduce the morbidity and mortality due to FMF in the region. MATERIAL AND METHODS: In this study, 100 pediatric patients who were admitted to our clinics and diagnosed to have FMF were included. The demographic, clinical, laboratory and genetic findings of the patients were examined retrospectively and the genotype-phenotype relationship was investigated. RESULTS: The female / male ratio of the patients was found as 1.5 / 1. The mean age of the patients at presentation was 10.74 ± 4.06 years. In 33% of the patients, there was parental consanguinity. The most common clinical findings were identified as fever (88%), abdominal pain (84%), joint pain (77%), myalgia (45%), headache (42%), arthritis (36%), and chest pain (%) 33). The most frequently detected mutation is the homozygous M694V mutation, which is followed by heterozygous M694V, combined heterozygous M694V / M680I, combined heterozygous M694V / M694I, combined heterozygous M694V / V726A, homozygous V726A, homozygous M680I, heterozygous E148Q and combined heterozygous M694V / E148Q. CONCLUSIONS: FMF is a heterogeneous disease group and the severity and course of the disease may vary. Our results are almost similar to the studies conducted in our country and worldwide. The awareness of physicians should be raised about this disease, which is clinically diagnosed and genetically supported, with improved training programmes.
Alan : Sağlık Bilimleri
Dergi Türü : Ulusal
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