Familial Mediterranean Fever Mimicking Wilson's Disease: A Case Report


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TURAN C. , Karakoyun M. , ECEVİT C. O. , YILMAZ F. , AYDOĞDU S.

JOURNAL OF PEDIATRIC RESEARCH, vol.5, no.3, pp.153-155, 2018 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 5 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.4274/jpr.63308
  • Title of Journal : JOURNAL OF PEDIATRIC RESEARCH
  • Page Numbers: pp.153-155

Abstract

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.