MEFV gene mutations in Henoch- Schonlein purpura

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dc.contributor.authorAltug, Umut
dc.contributor.authorEnsari, Cuneyt
dc.contributor.authorSayin, Derya B.
dc.contributor.authorEnsari, Arzu
dc.date.accessioned2020-06-25T18:07:15Z
dc.date.available2020-06-25T18:07:15Z
dc.date.issued2013
dc.departmentKırıkkale Üniversitesi
dc.descriptionensari, arzu/0000-0001-7036-4457
dc.description.abstractAimCoexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch-Schonlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to play an important role in the pathogenesis of this association. In the present study, the mutation rate of the MEFV gene in HSP and its association with the clinical course of the disease were evaluated. MethodThe study group comprised 68 children (36 boys and 32 girls) diagnosed as having HSP. The spectrum and degree of organ involvement and the levels of serum C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were documented for each patient. Allele-specific PCR using oligonucleotide probes which include 12 MEFV mutations (E148Q, P369S, F479L, M680I [G/C], M680I [G/A], I692del, M694V, M694I, K695R, V726A, A744S, R761H) were used for mutation analysis. ResultsOf the 68 patients studied, 50 (74%) showed no mutation, while 18 (26%) had MEFV mutation. Mutation analysis of the whole group revealed that 15 (22%) patients were heterozygous for one of the screened MEFV mutations, while three (4.5%) patients were compound heterozygous for two of the studied mutations, and one (1.5%) patient was homozygous for E148Q/E148Q mutations. Gastrointestinal and joint involvement, and edema were more frequently observed in patients with MEFV mutations, while ESR and CRP levels were significantly higher (P<0.05) in patients with MEFV mutations. ConclusionMEFV mutations, especially, E148Q and M694V, mutations might be associated with HSP and may affect clinical presentation and laboratory findings in HSP patients.en_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1111/1756-185X.12072
dc.identifier.endpage351en_US
dc.identifier.issn1756-1841
dc.identifier.issn1756-185X
dc.identifier.issue3en_US
dc.identifier.pmid23981758
dc.identifier.startpage347en_US
dc.identifier.urihttps://doi.org/10.1111/1756-185X.12072
dc.identifier.urihttps://hdl.handle.net/20.500.12587/5527
dc.identifier.volume16en_US
dc.identifier.wosWOS:000334521000017
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWileyen_US
dc.relation.ispartofInternational Journal Of Rheumatic Diseases
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.subjectpurpuraen_US
dc.subjectSchonlein-Henochen_US
dc.titleMEFV gene mutations in Henoch- Schonlein purpuraen_US
dc.typeArticle

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