Fabry hastalarında işitme fonksiyonu ve işitsel yolların değerlendirilmesi
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Dosyalar
Tarih
2019
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Necmettin Erbakan Üniversitesi Meram Tıp Fakültesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Fabry hastalığı, Gaucher hastalığından sonra ikinci en yaygın lizozomal depo bozukluğudur. Sfingolipid metabolizmasında fonksiyon gösteren alfa-galaktozidaz A enzim eksikliği nedeniyle çeşitli dokularda globotriaosilserebrozid birikmesi ile oluşmaktadır. Bu çalışmada, Fabry hastalarında işitme fonksiyonu ve işitsel yolların değerlendirilmesi amaçlanmıştır. Yöntem: Çalışmaya 16 Fabry hastası ve yaş-cinsiyet uyumlu sağlıklı kontrol grubu dahil edildi. Katılımcılara KBB uzmanı tarafından otoskopi ve vestibüler sistem muayenesi ile Odiometri+Timpanometri, Otoakustik Emisyon (OAE) ve Beyin Sapı Uyarılmış Cevap Odiometri (BERA) testleri yapıldı. Bulgular: Çalışmaya dahil edilen Fabry hastalarının 8'i (%50) kadın ve 8'i (%50) erkekti. Hastaların yaş ortalaması 33.5±15.4 olarak hesaplandı. Kontrol grubunun ise 5'i (%31.3) kadın, 11'i (%68.8) erkekti ve yaş ortalaması 33.6±6.3 olarak hesaplandı. İki grup arasında yaş ve cinsiyet dağılımı açısından fark yoktu (sırasıyla, p=0.976 ve p=0.280). Odiometri sonuçlarına göre, hasta grubunda 4 (%25) kişide iletim tipi işitme kaybı tespit edildi. Kontrol grubunda ise hiçbir hastada işitme kaybı tespit edilmedi (p=0.033). KBB uzmanı tarafından değerlendirilen timpanometri, OAE ve BERA ölçüm sonuçları normal aralıktaydı. Sonuç: Fabry hastalarında işitme kaybı oranı kontrol grubundan istatistiksel olarak anlamlı düzeyde fazla bulundu. Fabry hastalarında, BERA ve OAE testleri normal olarak değerlendirildi, ancak farklı dalga ve frekanslarda kontrol grubu ve Fabry hastaları arasında farklar mevcuttu. Anahtar kelimeler: Beyin sapı uyarılmış cevap odiometri, Fabry hastalığı, İşitme kaybı, Odiometri, Otoakustik emisyon
Fabry disease is the second most common lysosomal storage disorder after Gaucher's disease. It is formed by the accumulation of globotriaosilserebrozid in various tissues due to deficiency of alpha-galactosidase A which functions in sphingolipid metabolism. In this study, we aimed to evaluate hearing function and auditory pathways in Fabry patients. Methods: Sixteen Fabry patients and age-sex matched healthy controls were included in the study. Otoscopy and vestibular system examination, Odiometry + Tympanometry, Otoacoustic Emission (OAE) and Brainstem Evoked Response Audiometry (BERA) tests were performed by ENT specialist. Results: Of the Fabry patients included in the study, 8 (50%) were female and 8 (50%) were male. The mean age of the patients was 33.5±15.4 years. In the control group, 5 (31.3%) were female and 11 (68.8%) were male, and the mean age was 33.6 ± 6.3 years. There was no difference between the two groups in terms of age and gender distribution (p=0.976 and p=0.280, respectively). According to the audiometry results, conductive type hearing loss was detected in 4 (25%) patients in the patient group. No hearing loss was detected in the control group (p=0.033). The results of tympanometry, OAE and BERA evaluated by ENT specialist were within normal range. Conclusion: The rate of hearing loss in Fabry patients was statistically significantly higher than the control group. In Fabry patients, BERA and OAE tests were considered normal, but there were differences between the control and Fabry patients at different waves and frequencies. Keywords: Brainstem evoked response audiometry, Fabry disease, Hearing loss, Audiometry, Otoacoustic emission
Fabry disease is the second most common lysosomal storage disorder after Gaucher's disease. It is formed by the accumulation of globotriaosilserebrozid in various tissues due to deficiency of alpha-galactosidase A which functions in sphingolipid metabolism. In this study, we aimed to evaluate hearing function and auditory pathways in Fabry patients. Methods: Sixteen Fabry patients and age-sex matched healthy controls were included in the study. Otoscopy and vestibular system examination, Odiometry + Tympanometry, Otoacoustic Emission (OAE) and Brainstem Evoked Response Audiometry (BERA) tests were performed by ENT specialist. Results: Of the Fabry patients included in the study, 8 (50%) were female and 8 (50%) were male. The mean age of the patients was 33.5±15.4 years. In the control group, 5 (31.3%) were female and 11 (68.8%) were male, and the mean age was 33.6 ± 6.3 years. There was no difference between the two groups in terms of age and gender distribution (p=0.976 and p=0.280, respectively). According to the audiometry results, conductive type hearing loss was detected in 4 (25%) patients in the patient group. No hearing loss was detected in the control group (p=0.033). The results of tympanometry, OAE and BERA evaluated by ENT specialist were within normal range. Conclusion: The rate of hearing loss in Fabry patients was statistically significantly higher than the control group. In Fabry patients, BERA and OAE tests were considered normal, but there were differences between the control and Fabry patients at different waves and frequencies. Keywords: Brainstem evoked response audiometry, Fabry disease, Hearing loss, Audiometry, Otoacoustic emission
Açıklama
Anahtar Kelimeler
Akustik emisyon yöntemi, Acoustic emission method, Fabry hastalığı, Fabry disease, Odyometri, Audiometry
Kaynak
WoS Q Değeri
Scopus Q Değeri
Cilt
Sayı
Künye
Yönet, F. (2019). Fabry hastalarında işitme fonksiyonu ve işitsel yolların değerlendirilmesi. (Yayınlanmamış tıpta uzmanlık tezi) Necmettin Erbakan Üniversitesi, Meram Tıp Fakültesi Dahili Tıp Bilimleri İç Hastalıklar Anabilim Dalı, Konya.
