Ceyhun AÇARI, Meral BAYRAM, Gizem YILDIZ, Salih KAVUKÇU, Alper SOYLU

Çocuklarda Henoch-Schonlein purpurasının prezentasyonu ve klinik seyri üzerine MEFV varyantlarının etkisi?

Amaç: Henoch-Schonlein Purpura'lı (HSP) çocuklarda MEFV mutasyon sıklığını ve MEFV mutasyonlarının renal tutulum dahil klinik seyir üzerindeki etkilerini değerlendirmeyi amaçladık. Yöntemler: Bu çalışmaya MEFV mutasyonlarının varlığı açısından değerlendirilen HSP tanılı çocuklar alındı.Hastalar öncelikle MEFV mutasyonlarının varlığına göre mutasyonu olmayan hastalar Grup 1 ve en az bir allelde mutasyonu olan (heterozigot, homozigot veya bileşik heterozigot) hastaları içerenler Grup 2 olmak üzere iki gruba ayrıldı.Ayrıca en az bir allelde M694V mutasyonu olan hastaları M694V mutasyonu taşımayan hastalarla karşılaştırarak M694V mutasyonunun HSP seyri üzerindeki etkilerini spesifik olarak araştırdık. Bulgular: Kırk yedi hasta (23 kadın) kaydedildi. MEFV mutasyon oranı (%53) genel popülasyondaki oranın 3,5 katıydı. M694V en yaygın mutasyondu (%48). MEFV mutasyonlu hastalarda, özellikle M694V mutasyonlu hastalarda, öncesinde enfeksiyon görülme insidansı daha düşüktü, ancak inflamatuar belirteçler, kafa derisi ödemi ve nüks oranı arttı. MEFV mutasyonlarının varlığından böbrek tutulumu ve uzun dönem prognoz etkilenmedi. Sonuç: MEFV mutasyonları, HSP geliştirmeye yatkınlığa neden olmaktadır ve artan inflamasyon değişen klinik seyir ile ilişkilidir. Ancak böbrek tutulumu ve uzun dönem prognoz MEFV mutasyonlarının varlığından etkilenmemiştir.

Anahtar Kelimeler:

Henoch-Schonlein, IgA vasküliti, MEFV geni, renal tutulum

Effect of MEFV variants on the presentation and clinical course of Henoch-Schonlein purpura in children?

Objective: We aimed to evaluate MEFV mutation frequency and the effects of MEFV mutations on the clinical course including renal involvement in children with Henoch-Schonlein Purpura (HSP). Methods: Children with a diagnosis of HSP who were evaluated for the presence of MEFV mutations were enrolled in this study. Patients were primarily assigned into two groups based on the presence of MEFV mutations as Group 1 including patients without mutations and Group 2 including patients with mutations in at least one allele (heterozygous, homozygous, or compound heterozygous). We also investigated specifically the effects of M694V mutation on the course of HSP by comparing patients with M694V mutation in at least one allele with patients not carrying M694V mutation. Results: Forty-seven patients (23 female) were enrolled. MEFV mutation rate (53%) was 3.5 times the rate in general population. M694V was the most common mutation (48%). Patients with MEFV mutations, especially those with M694V mutation, had lower incidence of preceding infection, but increased inflammatory markers, scalp edema and relapse rate. Renal involvement and long-term prognosis were not affected by the presence of MEFV mutations. Conclusions: MEFV mutations cause susceptibility to develop HSP and are associated with increased inflammation and altered clinical course. However, renal involvement and long-term prognosis were not affected by the presence of MEFV mutations.

Keywords:

Henoch-Schonlein, IgA vasculitis, MEFV gene, renal involvement,

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