Familial Mediterranean Fever Mimicking Wilson's Disease: A Case Report
Küçük Resim Yok
Tarih
2018
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos Yayincilik
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Wilson's disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. Impaired biliary copper excretion leads to an accumulation of copper mostly in the liver, brain and cornea. Familial Mediterranean Fever (FMF) is an autosomal recessive autoimmune disease as a result of a mutation in the MEFV gene encoding pyrin protein characterized by recurring fever and polyserositis attacks. In this report, we describe a Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF.
Açıklama
Anahtar Kelimeler
Familial Mediterranean Fever, Wilson's disease, liver, cryptogenic cirrhosis, cholestasis
Kaynak
Journal of Pediatric Research
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
5
Sayı
3
