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First page of CFHR5 nephropathy case report: a novel variant characterized by tubulointerstitial kidney disease

CFHR5 nephropathy is considered a subtype of C3 glomerulopathy. It was originally described in Greek Cypriot families and it is characterized by the time with the development of microscopic hematuria and proteinuria associated with a fast progression towards ESKD especially in men. These symptoms present an autosomal dominant inheritance pattern and are associated with the exon 2 to 3 duplication of the CFHR5 gene. Here, we describe a novel clinical phenotype associated with a variant of the CFHR5. The affected subjects present the clinical features of Autosomal Dominant Tubulo-interstitial Kidney Disease. They present with CKD of unknown origin with no hematuria nor proteinuria. Like the classical CFHR5 nephropathy, males have a worse prognosis than females, with a fast progression towards ESKD in the second-third decade of life. Kidney pathology shows severe tubular atrophy and interstitial fibrosis and infiltrate. Arteries involvement is characterized by thickening of the intima layer, while no major alterations are described at the glomerular level. Electron Microscopy confirms no interstitial or glomerular filtration barrier alterations.

Journal Section:
Case Report
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2025
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