Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

Mutations in the NPHS 2 gene encoding podocin are implicated in an autosomal‐recessive
form of nonsyndromic steroid‐resistant nephrotic syndrome in both pediatric and adult …

Focal segmental glomerulosclerosis (FSGS) is not a disease, rather a pattern of histological
injury occurring from a variety of causes. The exact pathogenesis has yet to be fully …

The haploid human genome is composed of three billion base pairs, about one percent of
which consist of exonic regions, the coding sequence for functional proteins, also now …

Background Steroid-resistant nephrotic syndrome (SRNS) has a heterogeneous spectrum of
monogenic causes that substantially differ among populations. The aim of this study was to …

Focal segmental glomerulosclerosis (FSGS) is a complex disease which describes different
kinds of kidney defects, not exclusively linked with podocyte defects. Since nephrin mutation …

To maximize clinical benefits of genetic screening of patients with nephrotic syndrome (NS)
to diagnose monogenic causes, reliably distinguishing NS-causing variants from the …

Background Mutations in podocyte and basement membrane genes are associated with a
growing spectrum of glomerular disease affecting adults and children. Investigation of …

Background: Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage
kidney disease in children and young adults. Despite advances in genomic science that …

NPHS2, encoding podocin, is the major gene implicated in steroid‐resistant nephrotic
syndrome. Its c. 686G> A, p. R229Q variant is the first human variant with a mutation …