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| Item Type: | Article |
|---|---|
| Title: | A CD2AP mutation associated with focal segmental glomerulosclerosis in young adulthood |
| Creators Name: | Tsvetkov, D., Hohmann, M., Anistan, Y.M., Mannaa, M., Harteneck, C., Rudolph, B. and Gollasch, M. |
| 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. |
| Keywords: | CD2-Associated Protein (CD2AP), Focal Segmental Glomerulosclerosis, Genetics, Pathology, Steroid-Resistant Nephrotic Syndrome |
| Source: | Clinical Medicine Insights: Case Reports |
| ISSN: | 1179-5476 |
| Publisher: | Libertas Academica |
| Volume: | 9 |
| Page Range: | 15-19 |
| Date: | 14 March 2016 |
| Official Publication: | https://doi.org/10.4137/CCRep.S30867 |
| PubMed: | View item in PubMed |
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