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Clinical Medicine Insights: Case Reports

A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

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Clinical Medicine Insights: Case Reports 2016:9 15-19

Case Report

Published on 14 Mar 2016

DOI: 10.4137/CCRep.S30867


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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.



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