MEFV Gene Mutation Analysis in Children with Immunoglobulin A Vasculitis and Its Effects on Clinical Manifestations: A Big Series from a Tertiary Center

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dc.authoridYildirim, Sema/0000-0001-7311-519Xen_US
dc.authorscopusid56779628500en_US
dc.authorscopusid57220319091en_US
dc.authorscopusid59136109800en_US
dc.authorscopusid14518977800en_US
dc.contributor.authorYildirim, Sema
dc.contributor.authorKarakaya, Zeynep
dc.contributor.authorOzcay, Ozlem
dc.contributor.authorErguven, Muferet
dc.date.accessioned2024-08-23T16:03:27Z
dc.date.available2024-08-23T16:03:27Z
dc.date.issued2024en_US
dc.departmentDüzce Üniversitesien_US
dc.description.abstractAim: Immunoglobulin A vasculitis (IgAV) is the most common vasculitis of childhood, but its pathogenesis is largely unknown, despite evidence pointing to various environmental and genetic factors. We investigated the frequency of MEFV gene mutations that are considered in the pathogenesis and their effect on the clinical features of patients with IgAV. Methods: The study included 244 children diagnosed with IgAV, who underwent MEFV gene analyses. We recorded the demographic and clinical characteristics of the patients, along with their laboratory results. We grouped the patients based on the presence of MEFV gene mutations and MEFV variants. Results: At least one MEFV mutation was detected in 89 (36.5%) patients, with E148Q being the most common (n=31, 34.8%). Age at diagnosis and the frequency of hematuria and recurrence were significantly greater among patients with MEFV mutations (p=0.043, p=0.008, and p=0.009, respectively). Serum IgA levels were significantly higher in patients with the M694V mutation (p=0.040). Conclusion: The presence of MEFV mutations, particularly E148Q and M694V, could be associated with the development and clinical course of IgA vasculitis.en_US
dc.identifier.doi10.4274/haseki.galenos.2024.9578
dc.identifier.endpage91en_US
dc.identifier.issn1302-0072
dc.identifier.issn2147-2688
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-85193700824en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage82en_US
dc.identifier.urihttps://doi.org/10.4274/haseki.galenos.2024.9578
dc.identifier.urihttps://hdl.handle.net/20.500.12684/13759
dc.identifier.volume62en_US
dc.identifier.wosWOS:001240330900004en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofHaseki Tip Bulteni-Medical Bulletin of Hasekien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChildrenen_US
dc.subjecthematuriaen_US
dc.subjectIgA vasculitisen_US
dc.subjectMEFV geneen_US
dc.subjectrecurrenceen_US
dc.subjectHenoch-Schonlein Purpuraen_US
dc.subjectFamilial Mediterranean Feveren_US
dc.subjectPrevalenceen_US
dc.subjectFmfen_US
dc.titleMEFV Gene Mutation Analysis in Children with Immunoglobulin A Vasculitis and Its Effects on Clinical Manifestations: A Big Series from a Tertiary Centeren_US
dc.typeArticleen_US

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