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Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous

Katherine A Vernon1, Elena Goicoechea de Jorge, Angela E Hall

  • 1Centre for Complement and Inflammation Research, Imperial College, London, United Kingdom.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|April 17, 2012
PubMed

Insights

A rare CFHR5 gene variant may lead to persistent kidney disease after a common strep infection in children. This finding highlights a potential genetic risk factor for developing chronic glomerulonephritis.

Area of Science:

  • Nephrology
  • Genetics
  • Immunology

Background:

  • Acute poststreptococcal glomerulonephritis is a frequent cause of acute nephritis in children, typically resolving completely.
  • A minority of children with this condition progress to chronic kidney disease.

Observation:

  • A young girl presented with persistent kidney disease and hypocomplementemia following a streptococcal throat infection.
  • Kidney biopsy revealed C3 glomerulopathy, characterized by glomerular C3 deposition and specific electron-dense deposits.

Findings:

  • Genetic analysis identified a heterozygous CFHR5 gene variant (single nucleotide insertion in exon 4) causing a premature stop codon.
  • This CFHR5 variant was absent in controls, and affected individuals showed reduced serum CFHR5 levels.
  • Family members with the variant showed no overt kidney disease, suggesting a complex inheritance or risk factor.

Implications:

  • The identified CFHR5 variant may represent a genetic predisposition to developing chronic kidney disease post-streptococcal infection.
  • This discovery could inform genetic screening and risk stratification for children with post-infectious glomerulonephritis.
  • Further research is warranted to understand the pathogenic mechanisms linking CFHR5 variants to C3 glomerulopathy.

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