In this report, we describea Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF.
📌 3 Maddede Bu Makale
🎯
Amaç & Hipotez:Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport.
📊
Temel Bulgular & Veri:Impaired biliary copper excretion leadsto an accumulation of copper mostly in the liver, brain and cornea.
💡
Sonuç & Katkı:In this report, we describea Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. Impaired biliary copper excretion leadsto an accumulation of copper mostly in the liver, brain and cornea. Familial Mediterranean Fever (FMF) is an autosomal recessive autoimmune diseaseas a result of a mutation in the MEFV gene encoding pyrin protein characterized by recurring fever and polyserositis attacks. In this report, we describea Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF.
🔖
Bu Makaleye Atıf Yap
TURAN, C., KARAKOYUN, M., ECEVİT, Ç. Ö., BARBET, F. Y., AYDOĞDU, S. (2018). Familial Mediterranean Fever Mimicking Wilson’s Disease: A Case Report. The Journal of Pediatric Research, Cilt: 5 - Sayı: 3, 153–155. https://ajindex.com/articles/362741
Steindl P, Ferenci P, Dienes HP, et al. Wilson’s disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997; 113:212-8. Ferenci P. Pathophysiology and clinical features of Wilson disease. Metab Brain Dis 2004; 19:229-39.
Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998; 351:659-63.
Korkmaz C, Kaşifoğlu T. Changes in the liver function tests during the attacks of familial Mediterranean fever. Rheumatol Int 2007; 27:395-8.
Migita K, Abiru S, Tanaka M, et al. Acute hepatitis in a patient with familial Mediterranean fever. Liver Int 2008; 28:140-2.
Rimar D, Rosner I, Rozenbaum M, Zuckerman E. Familial Mediterranean fever: an association with non-alcoholic fatty liver disease. Clin Rheumatol 2011; 30:987–91.
Sari S, Egritas O, Bukulmez A, Dalgic B, Soylemezoglu O. Is familial Mediterranean fever a possible cofactor for Budd-Chiari syndrome? J Pediatr Gastroenterol Nutr 2009; 49:481–4.
Unal F, Cakir M, Baran M, et al. Liver involvement in children with Familial Mediterranean fever. Dig Liver Dis 2012; 44:689-93.
Tweezer-Zaks N, Doron-Libner A, Weiss P, et al. Familial Mediterranean fever and cryptogenic cirrhosis. Medicine 2007; 86:355-62.