Novel variations in NPHS1 gene in children of South Indian population and its association with primary nephrotic syndrome.

Mutations in NPHS1 can lead to disruption of the filtration barrier and cause proteinuria in nephrotic syndrome (NS). The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant NS, of which, six mutations and two single-nucleotide polymorphisms observed in the study population were found to be novel.

Experience of renal biopsy in children with nephrotic syndrome.

Percutaneous renal biopsy (PRB) is useful in childhood renal diseases. This study was done to determine the indications for renal biopsy in nephrotic children, to correlate the indications with histology and to document the complications of PRB. This study included 250 nephrotic children younger than 18 years old who had renal biopsy from January 1988 to December 2002. Ultrasonographic guidance was used in the latter part of the study. Coagulation profile and renal function assessment and blood group testing were done prior to biopsy. Children were monitored clinically during and after the procedure. All children had local anesthesia and 202 children also had short-acting general anesthesia. All biopsies were done on the left kidneys. The specimens were studied under light and immunofluorescent microscopy. All had a post-biopsy ultrasonography at 24 h. Biopsy was diagnostic in 95.2% of children, with a failure rate of 4.8%. The most common indication for biopsy was steroid-resistant nephrotic syndrome (65.2%), and minimal change disease (52.1%) was the most common histology, irrespective of the indications for renal biopsy. Mild (16.0%) and gross (16.8%) hematuria and subcapsular hematoma (6.0%) were the common complications. Fifty-five percent of the children had no complications. Only two children (0.8%) had biopsy site infection.