The incidence of idiopathic nephrotic syndrome (NS) is 1· 15–16· 9 per 100 000 children,
varying by ethnicity and region. The cause remains unknown but the pathogenesis of …

Idiopathic nephrotic syndrome newly affects 1–3 per 100,000 children per year.
Approximately 85% of cases show complete remission of proteinuria following …

Results Steroid-resistant nephrotic syndrome manifested in the first 5 years of life in 64% of
the patients. Congenital nephrotic syndrome accounted for 6% of all patients. Extrarenal …

An essential step in renal function entails the formation of an ultrafiltrate that is delivered to
the renal tubules for subsequent processing. This process, known as glomerular filtration, is …

Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders characterized
by nephrotic-range proteinuria, hypoalbuminaemia and oedema, which manifest in utero or …

Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease
in childhood and has a significant risk of rapid progression to end-stage renal disease. The …

Results We identified causing mutations in 34%(37/110) of SRNS patients, representing
67%(16/24) familial and 25%(21/86) sporadic cases. Mutations were detected in 100% of …

Background: Steroid resistant nephrotic syndrome (SRNS) is a rare condition, accounting for
10–15% of all children with idiopathic nephrotic syndrome. SRNS can be caused by genetic …

Results Analysis revealed known and novel disease-associated variations in expected
genes such as NPHS1, NPHS2, and PLCe1 in 19% of patients. Phenotypically unexpected …

Results The overall mutation detection rate was high at 57%(97% in CNS and 41% in
SRNS); 85% of all mutations were identified by the analysis of three single genes only …