Article
Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy.
Nephron - 1 Jan 2024
Riguetti Michelle Tiveron Passos, Varela-Calais Patricia, Fernandes Danilo E, da Silva Franco José Francisco, Ribeiro Nogueira Beatriz, Pesquero João B, Mastroianni-Kirsztajn Gianna
Abstract excerpt
Collapsing glomerulopathy (CG) is a rare glomerular disease and its familial form is even rarer. CG and non-collapsing forms of focal segmental glomerulosclerosis may both be caused by pathogenic variants in the same genes, but there is less information on genetics of the former disease. We hypothesized that different hits (viral infection and genetic variants) may be involved in the development of a familial CG...
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