A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood
نویسندگان
چکیده
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.
منابع مشابه
The lack of CD2-associated protein (CD2AP) in mice results in severe congenital nephrotic syndrome: Cd2ap−/− mice die of massive proteinuria shortly after birth, and Cd2ap+/− mice present glomerular disease at nine months with a kidney
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 p...
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