A Case of C3 Nephritis With a Rare Variant of the CFHR5 Gene

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公開日
2024-02-27
資源種別
journal article
DOI
  • 10.7759/cureus.55102
公開者
Springer Science and Business Media LLC

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説明

C3 nephropathy is a renal disease caused by the aberrant activation of the alternative complement pathway. The long-term renal prognosis of C3 nephropathy is generally poor, and elucidation of its pathogenesis is clinically important. Genetic abnormalities within complement genes, encompassing autoantibodies targeting complement components and complement factor H-related proteins (CFHRs), can lead to abnormal complement activation. CFHR5 is one of the best-known responsible genes for C3 nephritis. Moreover, the renal prognosis can vary depending on the specific type of genetic mutation. Here, we report the case of a young woman with C3 nephritis and a heterozygous rare variant, P453S, in CFHR5. The P453S variant, characterized by amino acid substitutions with a low allele frequency, was located in the region essential for CFHR5 protein function, and multiple in silico analyses were done suggesting the pathological significance of P453S. The renal function of our patient remains stable. The P453S variant might contribute to the suppression of the CFHR5 protein’s function, resulting in gradual complement progression and a favorable renal prognosis.

収録刊行物

  • Cureus

    Cureus 2024-02-27

    Springer Science and Business Media LLC

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