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Journals / Dicle Tıp Dergisi / 2015 / Cilt: 42 - Sayı: 1

Evaluation of the MEFV gene mutations and clinical symptoms in186 patients diagnosed as familial Mediterranean fever

Ailevi Akdeniz ateşi tanısı alan 186 olgunun klinik semptom ve MEFV geni mutasyonlarının incelenmesi

Mahmut ABUHANDAN
Cemil KAYA
AHMET GÜZELÇİÇEK
Pages
61–65
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The results of this study showed that our AAA patients have a wide range of mutations, and supported the heterogeneity of MEFV gene mutations in AAA.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: This retrospective study aimed to evaluate the clinical symptoms and the MEFV mutation ratios of the 186 patients diagnosed as Familial Mediterranean Fever.
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Key Findings & Data:Methods: Age, sex, admission symptoms, family history, and the MEFV mutation test cases of the 186 patients followed as Familial Mediterranean Fever were evaluated retrospectively.
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Conclusion & Impact:The results of this study showed that our AAA patients have a wide range of mutations, and supported the heterogeneity of MEFV gene mutations in AAA.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: This retrospective study aimed to evaluate the clinical symptoms and the MEFV mutation ratios of the 186 patients diagnosed as Familial Mediterranean Fever. Methods: Age, sex, admission symptoms, family history, and the MEFV mutation test cases of the 186 patients followed as Familial Mediterranean Fever were evaluated retrospectively. MEFV gene was analyzed with DNA se- quence analysis after amplifying the exons 1.-10. using PCR method. Results: There were 84 male and 102 female in the study, and the mean age was 9.45 ± 4.40 years. 26.9% of the patients had close relationship between the parents, and 25.8% had a family history of AAA. The most common symptoms were abdominal pain (92.5%), fever (89.2%), and arthralgia (24.2%) respectively. The most common mutations were R202Q (33.3%), M694V (22.6%), E148Q (22%), V726A (7.5%), R761H (4.3%), M680I (3.8%), and the others (6.5%) respectively. 21.5% homozygous, 67.7% heterozygous, and 10.8% compound heterozy - gous mutations of AAA were detected. Conclusion: FMF is a common disease in our country and has diffculties in the differential diagnosis. In recent years molecular genetically methods are considered more commonly for the diagnosis. The results of this study showed that our AAA patients have a wide range of mutations, and supported the heterogeneity of MEFV gene mutations in AAA.

Özet

Amaç: Bu çalışmada Ailevi Akdeniz Ateşi (AAA) tanısı alan ve MEFV mutasyon testi yapılan 186 hastanın retrospektif olarak semptom ve mutasyon oranı tespiti amaçlanmıştır. Yöntemler: Ailesel Akdeniz Ateşi tanısıyla izlenen 186 hastanın yaşı, cinsiyeti, geliş yakınmaları, aile öyküleri ve MEFV mutasyon testi durumlarını geriye dönük olarak değerlendirmeye alındı. MEFV geni 1. - 10. ekzonlar PCR yöntemi ile amplifiye edildikten sonra DNA dizi analizi ile çalışıldı. Bulgular: Hastaların 84ü erkek, 102si kız olup yaş ortalaması 9,45 ± 4,40 (yaş aralığı: 2-17) yıl idi. Olguların % 26,9 unun anne baba arasında yakın akrabalık ve % 25,8inin ailelerinde AAA öyküsü vardı. Sıklık sırasına göre başvuru nedenleri karın ağrısı, (%92,5), ateş (%89,2) ve eklem ağrıları (%24,2) yer aldı. Tespit edilen mutasyonlar sıklık sırasına göre R202Q (% 33,3), M694V (%22,6), E148Q (% 22), V726A (%7,5), R761H (%4,3), M680I (%3,8) ve diğerleri (%6,5) genotipi mutasyonlar olarak belirlendi. Hastaların % 21,5 homozigot ve %67,7si heterozigot ve %10,8inde birleşik heterozigot AAA mutasyonu saptandı. Sonuç: AAA, Ülkemizde sık görülen ve ayrıcı tanıda güçlük yaşanan bir hastalıktır. Son yıllarda AAA tanısında moleküler genetik yöntemler önem kazanmıştır. Bu çalışmanın sonuçları AAAlı hastalarda MEFV gen mutasyonundaki heterojeniteyi desteklemiş ve hastalarımızın geniş bir mutasyon yelpazesine sahip olduğunu göstermiştir.

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Cite This Article

ABUHANDAN, M., KAYA, C., GÜZELÇİÇEK, A. (2015). Evaluation of the MEFV gene mutations and clinical symptoms in186 patients diagnosed as familial Mediterranean fever. Dicle Tıp Dergisi, Cilt: 42 - Sayı: 1, 61–65. https://ajindex.com/articles/348862

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