1. A Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood
- Author
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Dmitry Tsvetkov, Michael Hohmann, Yoland Marie Anistan, Marwan Mannaa, Christian Harteneck, Birgit Rudolph, and Maik Gollasch
- Subjects
lcsh:R5-920 ,urologic and male genital diseases ,lcsh:Medicine (General) ,female genital diseases and pregnancy complications - 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.
- Published
- 2016