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Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.


ABSTRACT: In children, sporadic nephrotic syndrome can be related to a genetic cause, but to what extent genetic alterations associate with resistance to immunosuppression is unknown. In this study, we designed a custom array for next-generation sequencing analysis of 19 target genes, reported as possible causes of nephrotic syndrome, in a cohort of 31 children affected by sporadic steroid-resistant nephrotic syndrome and 38 patients who exhibited a similar but steroid-sensitive clinical phenotype. Patients who exhibited extrarenal symptoms, had a familial history of the disease or consanguinity, or had a congenital onset were excluded. We identified a genetic cause in 32.3% of the children with steroid-resistant disease but zero of 38 children with steroid-sensitive disease. Genetic alterations als

SUBMITTER: Giglio S 

PROVIDER: S-EPMC4279734 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature