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Journals / Haseki Tıp Bülteni / 2018 / Cilt: 56 - Sayı: 1

Relationship Among Clinical, Laboratory Findings, Disease Severity Scores and Genetic Mutations in Patient with Familial Mediterranean Fever

Ailevi Akdeniz Ateşi Hastalarında Klinik, Laboratuvar Bulguları, Hastalık Ağırlık Skorları ve Gen Mutasyonları Arasındaki İlişki

Selda YAVUZ
HATİCE NİLGÜN SELÇUK DURU
MURAT ELEVLİ
Pages
58–64
DOI
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AI Summary & Key Takeaways

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

The disease may be severe in patients with high sedimentation rate during attacks.

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: Familial Mediterranean Fever (FMF) is an auto inflammatory disease characterized by recurrent attacks of fever and inflammation of serosal tissues.
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Key Findings & Data:Methods: Fifty-four patients (27 girls and 27 boys) were enrolled in this study.
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Conclusion & Impact:The disease may be severe in patients with high sedimentation rate during attacks.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Aim: Familial Mediterranean Fever (FMF) is an auto inflammatory disease characterized by recurrent attacks of fever and inflammation of serosal tissues. In this study, we aimed to investigate the relationship of clinical and laboratory findings with genetic mutations and disease severity scores in children diagnosed with FMF. Methods: Fifty-four patients (27 girls and 27 boys) were enrolled in this study. The subjects were divided into groups according to disease severity score and gene mutations. Regional distributions, clinical and laboratory findings and MEFV mutations were evaluated. Clinical and laboratory findings were compared between the groups. Results: The mean age of the patients was 10.50±3.66 years. The most frequent complaints were fever, abdominal pain and arthralgia. The most frequent mutation was M694V (54.6%), followed by E148Q mutation (11.1%). The disease severity score in patients with M694V homozygous was higher than in other patients. Arthritis, erythema and myalgia were found to be higher in moderate-severe disease group than in mild disease group. Erythrocyte sedimentation rate during attacks were found to be higher in moderate-severe disease group.The patients were mostly from Eastern Anatolia region. Conclusion: Homozygous M694V mutation is associated with a more severe clinical course. The disease may be severe in patients with high sedimentation rate during attacks.

Özet

Amaç: Ailevi Akdeniz Ateşi (AAA), kendi kendini sınırlayan ateşin eşlik ettiği seröz membranların iltihabına bağlı ataklarla seyreden bir otoenflamatuvar hastalıktır. Çalışmamızda AAA tanılı hastalarda klinik ve laboratuvar bulgular ile gen mutasyonları ve hastalık ağırlık skorları arasındaki ilişkiyi araştırmayı amaçladık. Yöntemler: Çalışmamızda 27’si kız, 27’si erkek toplam 54 hastanın bölgesel dağılımları, klinik, laboratuvar bulguları ve taşıdıkları MEFV gen mutasyonları incelendi. Ağırlık skorlamasına ve gen mutasyonlarına göre oluşturulan gruplarda klinik/laboratuvar parametrelerin karşılaştırılması yapıldı. Bulgular: Hastaların yaş ortalaması 10,50±3,66 yıl olarak belirlendi. En sık görülen yakınmalar karın ağrısı, ateş ve eklem ağrısı idi. M694V mutasyonu (%54,6) en sık görülen mutasyon olup bunu E148Q (%11,1) izlemekteydi. Hastalık ağırlık skoru M694V homozigot hastalarda diğer hastalara göre daha yüksekti. Ağırlık skoruna göre orta-ağır hastalık grubunda hafif hastalık grubundan anlamlı daha yüksek artrit, eritem ve miyalji görüldü. Atak sırasındaki sedimantasyon hızı orta-ağır hastalık grubunda daha yüksek bulundu. Hastalarımızın en sık Doğu Anadolu Bölgesi kökenli olduğu belirlendi. Sonuç: AAA’lı hastalarda M694V homozigotluğu daha ciddi hastalık seyri ile birliktedir. Atak sırası sedimantasyon hızı yüksek olan hastalarda hastalık ağır seyredebilir.

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Cite This Article

YAVUZ, S., DURU, H. N. S., ELEVLİ, M. (2018). Relationship Among Clinical, Laboratory Findings, Disease Severity Scores and Genetic Mutations in Patient with Familial Mediterranean Fever. Haseki Tıp Bülteni, Cilt: 56 - Sayı: 1, 58–64. https://ajindex.com/articles/197320

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