Gene Polymorphism of Complement Factor H in a Turkish Patient With Membranoproliferative Glomerulonephritis Type II

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dc.contributor.authorSozeri, Betul
dc.contributor.authorMir, Sevgi
dc.contributor.authorBerdeli, Afig
dc.contributor.authorDincel, Nida
dc.contributor.authorSarsik, Banu
dc.date.accessioned2019-10-27T21:43:53Z
dc.date.available2019-10-27T21:43:53Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractMembranoproliferative glomerulonephritis (MPGN) is characterized by proliferation of mesangial and endothelial cells and by thickening of the peripheral capillary walls. Type II of the MPGN is associated with complement abnormalities which are factor H deficiencies due to mutations in the complement factor H (CFH) gene. We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A). These data recapitulate a prototypical complement genetic profile, the presence of major risk factors for MPGN II, which support the hypothesis that these dense deposit diseases have a common pathogenic mechanism involving dysregulation of the alternative pathway of complement activation.en_US
dc.identifier.endpage153en_US
dc.identifier.issn1735-8582
dc.identifier.issn1735-8604
dc.identifier.issue2en_US
dc.identifier.pmid22388616en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage149en_US
dc.identifier.urihttps://hdl.handle.net/11454/47162
dc.identifier.volume6en_US
dc.identifier.wosWOS:000305357400015en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherIranian Soc Nephrolgyen_US
dc.relation.ispartofIranian Journal of Kidney Diseasesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectmembranoproliferative glomerulonephritisen_US
dc.subjectcomplement factor Hen_US
dc.subjectgenetic polymorphismen_US
dc.titleGene Polymorphism of Complement Factor H in a Turkish Patient With Membranoproliferative Glomerulonephritis Type IIen_US
dc.typeArticleen_US

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