Abstract

SANCHEZ SOLANO, María Alejandra  and  GUERRERO TINOCO, Gustavo Adolfo. C3 Glomerulonephritis in a patient with Alport Syndrome: a rare case. Rev. colom. nefrol. [online]. 2022, vol.9, n.1, 401.  Epub Jan 01, 2022. ISSN 2500-5006.  https://doi.org/10.22265/acnef.9.1.491.

Alport Syndrome is a hereditary entity that occurs mainly due to a mutation in the genes that encode type IV collagen. C3 glomerulonephritis is a rare entity with a pattern of membranoproliferative glomerulonephritis and its etiology is based on abnormal control of the activation of the alternative complement pathway. We describe a case of a male patient who presents with a corticosteroid nephrotic syndrome in which a pattern of membranoproliferative glomerulonephritis is documented in the renal biopsy with C3 deposits in the immunofluorescence, associated with a heterozygous deletion in the gene CFHR1 in the genetic study of complement regulatory proteins. Furthermore, a variant COL4A5 associated with X-linked Alport syndrome is found in the genetic panel for corticosteroid resistance. These entities can present with a diverse clinical course, but when associated they can accelerate progression to chronic kidney disease, which is why makes it necessary to do a more strict clinical follow-up.

Keywords : Alport Syndrome; hereditary nephritis; glomerulonephritis; C3 glomerulonephritis; nephrotic syndrome; glomerular basement membrane..

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