Monogenic nephrotic syndrome (nephrotic syndrome caused by a single gene defect) is
responsible for only a small percentage of cases of nephrotic syndrome, but information from …

The recent discovery of genes involved in familial forms of nephrotic syndrome represents a
break-through in nephrology. To date, 15 genes have been characterized and several new …

The aim of the study was to present our experience in treating children with genetic forms of
nephrotic syndrome and diagnosing these diseases. We retrospectively reviewed the …

Many acquired and familial renal diseases in man lead to kidney dysfunction and nephrotic
syndrome. These diseases share a common pathological fate in the form of glomerular …

Exciting recent findings in the genotypic/phenotypic correlations of patients with congenital
nephrotic syndrome may not only modify our understanding of this disease but may also …

Human mutations in various genes have been associated with the development of steroid
resistant nephrotic syndrome (SRNS) in children and adults. These genes encode for …

Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting
with massive proteinuria within the first 3 months of life almost inevitably leading to end …

Nephrotic syndrome (NS) is a common pediatric kidney disease and is defined as massive
proteinuria, hypoalbuminemia, and edema. Dysfunction of the glomerular filtration barrier …

Rapid technological advances in genomic testing continue to increase our understanding of
the genetic basis of a wide range of kidney disorders. Establishing a molecular diagnosis …

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