Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey

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dc.contributor.authorOzturk, Can
dc.contributor.authorHalicioglu, Oya
dc.contributor.authorCoker, Isil
dc.contributor.authorGulez, Nesrin
dc.contributor.authorSutcuoglu, Sumer
dc.contributor.authorKaraca, Neslihan
dc.contributor.authorAksu, Guzide
dc.contributor.authorKutukculer, Necil
dc.date.accessioned2019-10-27T21:43:57Z
dc.date.available2019-10-27T21:43:57Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractThe aim of this study was to determine the relationship between clinical findings and the most common mutated alleles of MEFV gene in a childhood population and to determine the sensitivity of the 12-mutation-strip assay test in familial Mediterranean fever (FMF). Records of 452 FMF children living in western Anatolia, Turkey, (12.3 +/- 4.7 years mean) were retrospectively reviewed. Of the 408 patients who met the Tel-Hashomer criteria, 364 were classified into two main groups (two-mutant/one-mutant allele) either of which had three subgroups. The two-mutant allele frequency was 51% and one-mutant allele 38%; 1% had complex-mutant alleles and 10% no mutantalleles. The mean severity score was 8.3 +/- 2.5. Most common clinical features were fever (81.9%), abdominal pain (86.3%) and myalgia (58.8%), and the least common ones: diarrhea (1.7%), protracted febrile myalgia (1.2%) and acute orchitis (1.5%). We detected 33 different genotypes of the MEFV gene: the most common mutant allele was M694V followed by symptomatic allele mutation of E148Q. Although not significantly associated with clinical findings, P369S mutation was not rare (7.5%). Phenotype-genotype correlation revealed that patients with two-allele mutations had more severe clinical presentation and high constipation rate (22.5%); 32.6% of patients with M694V/M694V had splenomegaly. Acute orchitis and protracted febrile myalgia as rare clinical findings were more common in M694V homozygotes. Comparisons of clinical findings among patients with one-mutation allele were made for the first time, but no significant association was found. Positive predictive value of strip assay screening for 12 mutations was recorded as 89%. We suggest that whole sequence analysis for supportive diagnosis of FMF should be performed for selected patients only.en_US
dc.identifier.doi10.1007/s10067-011-1876-1en_US
dc.identifier.endpage501en_US
dc.identifier.issn0770-3198
dc.identifier.issn1434-9949
dc.identifier.issue3en_US
dc.identifier.pmid22057232en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage493en_US
dc.identifier.urihttps://doi.org/10.1007/s10067-011-1876-1
dc.identifier.urihttps://hdl.handle.net/11454/47171
dc.identifier.volume31en_US
dc.identifier.wosWOS:000303448900014en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer London Ltden_US
dc.relation.ispartofClinical Rheumatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectChildhooden_US
dc.subjectConstipationen_US
dc.subjectE148Qen_US
dc.subjectFamilial Mediterranean feveren_US
dc.subjectM694Ven_US
dc.subjectMEFV strip assayen_US
dc.subjectSplenomegalyen_US
dc.titleAssociation of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkeyen_US
dc.typeArticleen_US

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