Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria

ConclusionsWe confirmed that in cohorts of childhood-onset SRNS, patients with nephritic syndrome can be discerned by WES. The findings highlight the importance of clinical genetic testing for therapeutic and preventative measures in patients with proteinuria.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research