Kriptojenik sirozlarda ve HBV ilişkili sirozlarda HFE gen mutasyonları
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Tarih
2017
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info:eu-repo/semantics/openAccess
Özet
Giriş ve amaç: HFE gen mutasyonları ile ilişkili herediter hemokromatozis, Avrupa populasyonunda yaygın görülen otozomal resesif geçişli bir hastalıktır. Mutasyonlardaki yüksek frekans sıklığıyla uyumsuz olacak şekilde tipik hastalık fenotipiyle nisbeten az karşılaşılmasından dolayı, populasyon bazlı tarama programları taraftar bulmamaktadır. Bu sebeple HFE'nin mutasyonlarını yüksek riskli hasta gruplarında taramak daha mantıklı görünmektedir. Çalışmamızda kriptojenik ve hepatit B'li sirozlularda HFE gen mutasyonlarının sıklığını belirlemeyi amaçladık. Gereç ve yöntem: Bu çalışmada, 29 hepatit B'li ve 29 kriptojenik sirozlu olgu incelendi. HFE gen mutasyonları, ?Haemochromatosis StripAssay A of VıennaLab? yöntemi ile çalışıldı. Bulgular: Yirmidokuz kriptojenik sirozlu olgunun 1'inde C282Y heterozigotluğu, 2'sinde H63D homozigotluğu ve 5'inde de H63D mutasyonu heterozigotluğu tespit edildi. Hepatit B'li 29 olgunun 1'inde H63D ve E168Q birleşik heterozigotluğu ve 5'inde H63D mutasyonu heterozigotluğu bulundu. Hepatit B'li ve kriptojenik sirozlu hasta gruplarında mutasyon oranları açısından istatistiksel fark yoktu. İki grupta toplamda H63D mutasyon oranı 58 hastanın 13'ünde (13/58) %22.4, C282Y mutasyonu 58 hastanın 1'inde (%1.72) tespit edildi. Kriptojenik sirozlularda allel sayısına göre H63D mutasyon oranı %31.03 (9/29) bulundu. Sonuç: Sonuç olarak HFE mutasyonları bölgemiz için önemli bir sağlık problemi gibi görünmemektedir. Kriptojenik siroz hastalarında bulduğumuz heterozigot C282Y ve iki hastada da homozigot H63D varlığı değerlendirildiğinde seçilmiş hasta gruplarında bu mutasyonların taranması önerilebilir. Özellikle kriptojenik sirozlu olgularda gerek HH tanısı için gerekse ılımlı demir birikimi ile bu mutasyonların hepatik hasarı arttırıcı etkisini ortaya koymak ve belki de flebotomi ile sirozun ilerleyişini yavaşlatabilmek amacıyla bu mutasyonları araştırılabilir bulmaktayız. Klinisyenler karaciğer hastalarında bu mutasyonların morbidite ve mortaliteye olan olası katkısı açısından uyanık olmalıdır.
Backround and aim: Mutations of HFE gene are associated with hereditary hemochomatosis (HH), the most common autosomal recessive disorder in European population. To early detection, population screening is not currently advocated because of the discrepancy between the common mutation prevalence and apparently lower frequency of clinical disease. It is reasonable that screen high-risk patient populations for the abnormal mutation of HFE. We aimed to identify the frequency of mutations in the HFE gene in patients with cryptogenic cirrhosis and cirrhosis due to chronic hepatitis B. Matherial and method: In this study we analyzed 29 patients with hepatitis B cirrhosis and 29 patients with a diagnosis of cryptogenic cirrhosis. HFE gene mutation was analysed by the ?Haemoghromatosis StripAssay A of VıennaLab?. Resuts: Of the 29 cases of with cryptogenic cirrhosis, 1 was found to be heterozygous for the C282Y mutation , 2 were found to be homozygous for the H63D and 5 were found to be heterozygous for the H63D mutation. Of the 29 cases of hepatitis B cirrhosis, 1 was found to be compound heterozygous for the H63D and E168Q mutation and 5 were found to be heterozygous for H63D mutation. Mutation rates were not statistically different in patients with hepatitis B and cryptogenic cirrhosis. In a total H63D mutation was present in 13 out of 58 patients (22.4%) and C282Y mutation was present in 1 out of 58 patients(1.72%). According to the number of allel the rate of H63D mutation was 31.03% (9/29) among patients with cryptogenic cirrhosis. Conclusion: The prevalences of HFE gene mutations assiciated with HH are high among east-soutern of Anatolian cases with cryptogenic cirrhosis. Mutation of HFE gene may play role in worsen hepatic inflammation and progressing cirrhosis in our population.
Backround and aim: Mutations of HFE gene are associated with hereditary hemochomatosis (HH), the most common autosomal recessive disorder in European population. To early detection, population screening is not currently advocated because of the discrepancy between the common mutation prevalence and apparently lower frequency of clinical disease. It is reasonable that screen high-risk patient populations for the abnormal mutation of HFE. We aimed to identify the frequency of mutations in the HFE gene in patients with cryptogenic cirrhosis and cirrhosis due to chronic hepatitis B. Matherial and method: In this study we analyzed 29 patients with hepatitis B cirrhosis and 29 patients with a diagnosis of cryptogenic cirrhosis. HFE gene mutation was analysed by the ?Haemoghromatosis StripAssay A of VıennaLab?. Resuts: Of the 29 cases of with cryptogenic cirrhosis, 1 was found to be heterozygous for the C282Y mutation , 2 were found to be homozygous for the H63D and 5 were found to be heterozygous for the H63D mutation. Of the 29 cases of hepatitis B cirrhosis, 1 was found to be compound heterozygous for the H63D and E168Q mutation and 5 were found to be heterozygous for H63D mutation. Mutation rates were not statistically different in patients with hepatitis B and cryptogenic cirrhosis. In a total H63D mutation was present in 13 out of 58 patients (22.4%) and C282Y mutation was present in 1 out of 58 patients(1.72%). According to the number of allel the rate of H63D mutation was 31.03% (9/29) among patients with cryptogenic cirrhosis. Conclusion: The prevalences of HFE gene mutations assiciated with HH are high among east-soutern of Anatolian cases with cryptogenic cirrhosis. Mutation of HFE gene may play role in worsen hepatic inflammation and progressing cirrhosis in our population.
Açıklama
Gastroenteroloji Yan Dal Tezi olarak hazırlanmıştır.
Anahtar Kelimeler
Gastroenteroloji, Karaciğer sirozu, Kriptojenik siroz, Herediter hemokromatozis
