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Information Journal Paper

Title

GENE POLYMORPHISM OF COMPLEMENT FACTOR H IN A TURKISH PATIENT WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II

Pages

  149-153

Abstract

MEMBRANOPROLIFERATIVE 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.

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    APA: Copy

    SOZERI, BETUL, MIR, SEVGI, BERDELI, AFIG, DINCEL, NIDA, & SARSIK, BANU. (2012). GENE POLYMORPHISM OF COMPLEMENT FACTOR H IN A TURKISH PATIENT WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II. IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD), 6(2), 149-153. SID. https://sid.ir/paper/309184/en

    Vancouver: Copy

    SOZERI BETUL, MIR SEVGI, BERDELI AFIG, DINCEL NIDA, SARSIK BANU. GENE POLYMORPHISM OF COMPLEMENT FACTOR H IN A TURKISH PATIENT WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II. IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD)[Internet]. 2012;6(2):149-153. Available from: https://sid.ir/paper/309184/en

    IEEE: Copy

    BETUL SOZERI, SEVGI MIR, AFIG BERDELI, NIDA DINCEL, and BANU SARSIK, “GENE POLYMORPHISM OF COMPLEMENT FACTOR H IN A TURKISH PATIENT WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II,” IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD), vol. 6, no. 2, pp. 149–153, 2012, [Online]. Available: https://sid.ir/paper/309184/en

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