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

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 dis...

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Bibliographic Details
Published in:The journal of pediatric research 2018-09, Vol.5 (3), p.153-155
Main Authors: Turan, Caner, Karakoyun, Miray, Ecevit, Cigdem Omur, Yilmaz, Funda, Aydogdu, Sema
Format: Article
Language:English
Subjects:
Case reports
Case studies
cholestasis
Comparative analysis
cryptogenic cirrhosis
Diagnosis
Differential diagnosis
Familial Mediterranean Fever
Fever
liver
Methods
Pediatric diseases
Periodic disease
Tıp
Wilson's disease
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Description
Summary: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. Keywords: Familial Mediterranean Fever, Wilson's disease, liver, cryptogenic cirrhosis, cholestasis
ISSN:2147-9445
2147-9445
2587-2478
DOI:10.4274/jpr.63308