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Published on: August 8, 2022
C3 glomerulonephritis associated with a missense mutation in the factor H gene
Keisuke Sugimoto1, Shinsuke Fujita, Kouhei Miyazaki
1Department of Pediatrics, Kinki University School of Medicine, Osaka, Japan.
The Tohoku Journal of Experimental Medicine
|July 14, 2012
Summary
A rare homozygous mutation in the Complement Factor H (CFH) gene was identified in a patient with C3 glomerulonephritis. This finding expands the known spectrum of CFH-related kidney diseases.
Area of Science:
- Immunology
- Nephrology
- Genetics
Background:
- The complement system, crucial for innate immunity, comprises classical, alternate, and mannose-binding lectin pathways converging at complement component (C) 3.
- Complement Factor H (CFH) regulates the alternate pathway, preventing uncontrolled complement activation.
Observation:
- A 24-year-old woman presented with C3 glomerulonephritis and persistently low C3 levels.
- Kidney biopsy revealed isolated mesangial C3 deposits and mesangial proliferation without glomerular capillary wall thickening.
Findings:
- Genetic analysis identified a homozygous CFH missense mutation (G3048T; Asp936Glu) in the patient.
- Low serum CFH concentration correlated with the identified mutation.
Implications:
- This case links a specific CFH mutation to C3 glomerulonephritis, expanding the phenotypic spectrum of CFH-related disorders.
- Understanding this link offers insights into complement-mediated kidney disease pathogenesis and potential therapeutic targets.
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