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- W2300964889 abstract "Mutations in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS); however, reports of CD2AP mutations remain scarce. We performed Sanger sequencing in a patient with steroid-resistant FSGS and identified a heterozygous CD2AP mutation (p.T374A, c.1120 A > G). Our patient displayed mild cognitive decline, a phenotypic characteristic not previously associated with CD2AP-associated FSGS. His proteinuria was remarkably reduced by treatment with cyclosporine A. Our findings expand the genetic spectrum of CD2AP-associated disorders and broaden the associated phenotype with the co-occurrence of cognitive decline. Our case shows that cyclosporin A is a treatment option for CD2AP-associated nephropathy." @default.
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- W2300964889 date "2016-01-01" @default.
- W2300964889 modified "2023-10-13" @default.
- W2300964889 title "A <i>CD2AP</i> Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood" @default.
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- W2300964889 doi "https://doi.org/10.4137/ccrep.s30867" @default.
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