A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood | Zendy

D Tsvetkov | Zendy; Michael Hohmann | Zendy; Yoland Marie Anistan | Zendy; Marwan Mannaa | Zendy; Christian Harteneck | Zendy; Birgit Rudolph | Zendy; Maik Gollasch | Zendy

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A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood

Author(s) -

D Tsvetkov,

Michael Hohmann,

Yoland Marie Anistan,

Marwan Mannaa,

Christian Harteneck,

Birgit Rudolph,

Maik Gollasch

Publication year - 2016

Publication title -

clinical medicine insights case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.187

H-Index - 12

ISSN - 1179-5476

DOI - 10.4137/ccrep.s30867

Subject(s) - focal segmental glomerulosclerosis , medicine , phenotype , sanger sequencing , mutation , proteinuria , cognitive decline , glomerulosclerosis , endocrinology , bioinformatics , genetics , kidney , biology , disease , gene , dementia

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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