The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey

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dc.contributor.authorEce, Aydin
dc.contributor.authorCakmak, Erdal
dc.contributor.authorUluca, Unal
dc.contributor.authorKelekci, Selvi
dc.contributor.authorYolbas, Ilyas
dc.contributor.authorGunes, Ali
dc.contributor.authorYel, Servet
dc.date.accessioned2024-04-24T16:00:06Z
dc.date.available2024-04-24T16:00:06Z
dc.date.issued2014
dc.departmentDicle Üniversitesien_US
dc.description.abstractThe aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family history of FMF and parent-to-offspring transmission was found in 58.5 and 42.2 % of families, respectively. The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients. The M694V subgroup had higher mean disease severity score and longer attack duration compared with E148Q and other mutations subgroups (p < 0.05). Two patients with amyloidosis had the M694V homozygote genotype. In conclusion contrast to other regions and many other ethnicities of the world, the most frequent MEFV gene mutation was E148Q in southeast Turkey. The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.en_US
dc.identifier.doi10.1007/s00296-013-2858-1
dc.identifier.endpage212en_US
dc.identifier.issn0172-8172
dc.identifier.issn1437-160X
dc.identifier.issue2en_US
dc.identifier.pmid24071932
dc.identifier.scopus2-s2.0-84895789616
dc.identifier.scopusqualityQ1
dc.identifier.startpage207en_US
dc.identifier.urihttps://doi.org/10.1007/s00296-013-2858-1
dc.identifier.urihttps://hdl.handle.net/11468/14370
dc.identifier.volume34en_US
dc.identifier.wosWOS:000330828900008
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofRheumatology International
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFamilial Mediterranean Feveren_US
dc.subjectMefv Geneen_US
dc.subjectMutationsen_US
dc.subjectClinical Findingsen_US
dc.subjectSoutheast Turkeyen_US
dc.titleThe MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkeyen_US
dc.titleThe MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey
dc.typeArticleen_US

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