Colchicine has anti-inflammatory effects by reorganizing the actin cell skeleton, and it leads to downstream Mediterranean fever (
MEFV) gene expression in FMF (10-11).
The patient exhibited spontaneous pattern myalgia findings, and the symptoms did not respond to resting or taking NSAIDs, and lasted longer (six to seven days on average), contrary to what is reported in the literature.[8] Based on the
MEFV mutation analysis showing a homozygous M694V mutation, colchicine treatment was initiated to relieve FMF-induced symptoms, and the patient responded to the treatment well.
Reduced
MEFV messenger RNA expression in patient with familial Mediterranean fever.
A Case of Henoch-Schonlein Purpura with P369S Mutation in
MEFV Gene.
MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.
One month later, the
MEFV genetic results were returned, which confirmed the diagnosis.
To the best of our knowledge, there is no published study indicating mutations in the
MEFV gene in asymptomatic parents of FMF patients, so we discovered
MEFV gene of healthy and asymptomatic parents, who had an offspring suffering from FMF attacks and had at least one known mutation.
Ailesel Akdeniz atesi hastalarinda
MEFV geninin kodladigi pyrin (pirin) proteinindeki mutasyon sonucu pro-IL-1'in aktif IL-1'e donusumu kontrol edilemez.
It is also designated
MEFV (ME for Mediterranean and FV for fever).
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by a mutation of the
MEFV (Mediterranean fever) gene, which is responsible for making pyrin.
Routine fever gene Sanger sequencing for more commonly encountered autoinflammatory diseases known to cause skin rashes was negative for
MEFV, MVK, NLRP3, NOD2, and TNFRSF1A.