PRAGUE MEDICAL REPORT, Vol 115 No 3 (2014), 128–133
Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant
Flora Tzifi, Philip Hawkins, Erato Atsali, Doxa Kotzia, Achilleas Attilakos
DOI: https://doi.org/10.14712/23362936.2015.4
zveřejněno: 24. 04. 2015
Abstract
Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied by synovial, serosal and/or cutaneous inflammation. Liver involvement has been described mainly in patients with paired FMF gene mutations, i.e. involving both alleles, and rarely in patients heterozygous for FMF mutations. These patients may present with acute or chronic hepatitis, with or without liver failure. Non-alcoholic hepatitis, mild hyperbilirubinemia, and elevation of liver enzymes of unknown etiology should also raise suspicion of FMF. Patients with FMF and liver involvement usually respond to colchicine medication. The mutation I259V (c.775A
klíčová slova: Children; Familial Mediterranean Fever; Hepatitis; I259V variant
167 x 240 mm
vychází: 4 x ročně
cena tištěného čísla: 450 Kč
ISSN: 1214-6994
E-ISSN: 2336-2936
