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Gene polymorphism of complement factor H in a Turkish patient with membranoproliferative glomerulonephritis type II

Betul Sozeri1, Sevgi Mir, Afig Berdeli

  • 1Department of Pediatric Nephrology, Ege University Faculty of Medicine, Bornova, Izmir, Turkey. betulsozeri@yahoo.com

Iranian Journal of Kidney Diseases
|March 6, 2012
PubMed

Insights

Genetic analysis revealed specific complement factor H gene polymorphisms in a patient with Membranoproliferative Glomerulonephritis Type II. These findings support a common mechanism involving complement pathway dysregulation in dense deposit diseases.

Area of Science:

  • Nephrology
  • Genetics
  • Immunology

Background:

  • Membranoproliferative glomerulonephritis (MPGN) involves mesangial/endothelial cell proliferation and capillary wall thickening.
  • MPGN Type II is linked to complement abnormalities, particularly factor H deficiencies caused by CFH gene mutations.

Observation:

  • A 15-year-old boy diagnosed with MPGN II underwent genetic analysis.
  • The patient was found to be heterozygous for polymorphisms in exons 2, 9, and 10 of the complement factor H (CFH) gene.

Findings:

  • The identified CFH gene polymorphisms (c.184G>A, c.1204C>T, c.1419G>A) represent a characteristic genetic profile for MPGN II.
  • This profile indicates the presence of significant risk factors for developing MPGN II.

Implications:

  • The findings support a shared pathogenic mechanism for dense deposit diseases.
  • This mechanism likely involves the dysregulation of the alternative pathway of complement activation.

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