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A CD2AP mutation associated with focal segmental glomerulosclerosis in young adulthood

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Item Type:Article
Title:A CD2AP mutation associated with focal segmental glomerulosclerosis in young adulthood
Creators Name:Tsvetkov, D. and Hohmann, M. and Anistan, Y.M. and Mannaa, M. and Harteneck, C. and 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 (New Zealand)
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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