BRCA Mutasyonu Otoskleroz İçin Risk Faktörü Olabilir mi?

Abstract

Amaç: Bu çalışmanın amacı BRCA mutasyonu olan hastalarda otoskleroz varlığını araştırmaktır.Gereç ve Yöntemler: BRCA mutasyonu olan ve meme kanseri nedeniyle opere edilen hastalar ile sağlıklı kontrol grubu arasında işitsel fonksiyonlar karşılaştırıldı. Çalışmaya 20 sağlıklı kontrol ve 20 BRCA 1 veya BRCA 2 mutasyonuna sahip toplamda 40 birey dahil edildi. Her iki grup, yaş aralığı 2538 arasında ve yaş ortalaması 31.7±3.5 yıl olan kadın katılımcılardan oluşturuldu. BRCA mutasyonuna sahip hastaların yaş ortalaması 34±2.7 iken sağlıklı kontrollerin yaş ortalaması 29.4±2.5ʼdi. Tüm katılımcılara baş-boyun muayenesi, saf ses odyometrisi, akustik refleks ve timpanometritestleri yapıldı. Akut ve kronik orta kulak iltihabı, baş ve boyun travması, işitme bozukluğuna yol açabilecek ilaç kullanımı ve kulak operasyon öyküsü olan hastalar çalışma dışı bırakıldı. Bulgular: Her iki gruptan da tip A timpanometri, normal akustik refleks ve normal işitme seviyeleri ≤ 20dB elde edildi. Sağlıklı kontroller ile BRCA mutasyonu olan hastalar arasında 250 Hz - 2000 Hz arasındaki kemik ve hava yolu düzeylerinde istatistiksel olarak anlamlı bir fark gözlenmedi.Sonuç: BRCA mutasyonuna sahip hastalar ile sağlıklı kontroller arasında saf ses odyometri sonuçları açısından istatiksel anlamlı farklılık saptanmadı. BRCA mutasyonu olan hastalarda otosklerotik odak varlığını göstermek için ileri ve histopatolojik çalışmalar gerekebilir

Keywords

• BRCA, Otoskleroz, Osteoprotegerin

Can BRCA Mutation be a Risk Factor for Otosclerosis?

Abstract

Objective: The aim of this study was to investigate the presence of otosclerosis in patients with BRCA mutation.Material and Methods: Auditory functions were compared between patients with BRCA mutation who were operated due to breast cancer and healthy controls. The study included a total of 40 individuals, among those, 20 were healthy controls, and 20 had BRCA 1 and BRCA 2 mutation. All participants were female in both groups. Age range was 25-38 years, and mean age was 31.7±3.5 years. Mean age among patients with BRCA mutation and healthy controls were 34±2.7 and 29.4±2.5, respectively. All participants were undertaken head-neck examination, pure-tone audiometry, acoustic reflex and tympanometry tests. Patients with acute and chronic otitis media, head and neck trauma, drug use that may lead to hearing impairment, and ear operation history were excluded from the study.Results: All participants of both groups revealed type A tympanometry, normal acoustic reflex, and a normal auditory level ≤ 20dB . No statistically significant difference was observed in the bone and airway levels between 250 Hz - 2000 Hz between healthy controls and patients with BRCA mutation. Conclusion: No significant difference was observed in the pure-tone audiometry between patients with BRCA mutation and healthy controls. Further and histopathologic studies may be needed to demonstrate the presence of otosclerotic focus in patients with BRCA mutation

Keywords

• BRCA, Otosclerosis, Osteoprotegerin

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