NPHS2 Mutations in Indian Children with Sporadic Early Steroid Resistant Nephrotic Syndrome.

We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children with sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only one (4%) had a pathogenic mutation resulting in a stop codon. The allele and genotype frequencies of the four known single nucleotide polymorphisms detected in the cohort were similar to that of controls. This finding emphasizes the need to screen for mutations in other genes involved in the pathogenesis of SRNS.

Management of steroid sensitive nephrotic syndrome: revised guidelines.

JUSTIFICATION: In 2001, the Indian Pediatric Nephrology Group formulated guidelines for management of patients with steroid sensitive nephrotic syndrome. In view of emerging scientific evidence, it was felt necessary to review the existing recommendations. PROCESS: Following a preliminary meeting in March 2007, a draft statement was prepared and circulated among pediatric nephrologists in the country to arrive at a consensus on the evaluation and management of these patients. OBJECTIVES: To revise and formulate recommendations for management of steroid sensitive nephrotic syndrome. RECOMMENDATIONS: The need for adequate cortico-steroid therapy at the initial episode is emphasized. Guidelines regarding the initial evaluation, indications for renal biopsy and referral to a pediatric nephrologist are updated. It is proposed that patients with frequently relapsing nephrotic syndrome should, at the first instance, be treated with long-term, alternate-day prednisolone. The indications for use of alternative immunosuppressive agents, including levamisole, cyclophosphamide, mycophenolate mofetil and cyclosporin are outlined. The principles of dietary therapy, management of edema, and prevention and management of complications related to nephrotic syndrome are described. These guidelines, formulated on basis of current best practice, are aimed to familiarize physicians regarding management of children with steroid sensitive nephrotic syndrome.

Cyclosporine in steroid dependent and resistant childhood nephrotic syndrome.

OBJECTIVE: To evaluate the efficacy of cyclosporine (CyA) monotherapy in steroid resistant (SRNS) and steroid dependent (SDNS) nephrotic syndrome in children. DESIGN: A retrospective study. SETTING: Tertiary kidney care center for children at Bangalore. METHODS: Forty-one children with SDNS and SRNS with normal renal functions were treated with CyA at a dose of 6 mg/kg/day initially and maintained at 3 to 4 mg/kg/day if remission was sustained. The dosage was adjusted according to the CyA blood levels in non-responders. RESULTS: The median age of patients was 93 months (range 48-936) months. Thirteen children had minimal change disease (MCNS), 10 had mesangial proliferative glomerulonephritis (GN). Ten had membrano-proliferative (GN) (MPGN) and 8 had focal segmental glomerulosclerosis (FSGS). Median age at onset of disease and median time for CyA usage from disease onset was 22 months and 16 months respectively. Median duration of CyA therapy was 24 months (range 6-72) months. The data was analyzed to determine significance of variables on the outcome. Median follow up was 71 months (range 20-205) months. Eleven children were CyA resistant. Of the remaining 30 who were CyA responders, 22 (73.33%) were CyA dependent. Seven children developed chronic renal failure (CRF). CONCLUSIONS: The predictors for CyA non-responsiveness were steroid resistance, non MCNS on biopsy and longer duration between onset of nephrotic syndrome and CyA usage, irrespective of the age of onset of the disease. There was a higher incidence of CyA dependence among young responders. Patients with CyA resistance are at high risk for significant infections and CRF.

Pediatric renal transplantation: the Bangalore experience.

A retrospective analysis was done on 47 pediatric renal transplants performed over last 16 years at Bangalore, Karnataka. The median age and weight of the recipients at transplantation were 120 months and 21 kg respectively; male to female ratio was 30 to 17. Twenty two children had underlying glomerular disease and 23 had tubulointerstitial disease. Preemptive transplantation was done in 33.3% of patients, 57.2% received hemodialysis and 9.5% received peritoneal dialysis prior to transplantation. The mean duration of dialysis was 2.6 months.The most common source of donor organ was the mother. Immunosuppression medications included cyclosporine, azathioprine, and corticosteroids. Graft survival at 1 year, 5 years, and 10 years was 80%, 45.8% and 37.5% respectively. Renal transplantation is the most optimal way to manage children with ESRD with satisfactory long term results.

Congenital Nephrotic Syndrome with adrenal calcification and cardiac malformation.

Congenital Nephrotic Syndrome (CNS) with adrenal calcification and CNS with congenital heart disease (CHD) have rarely been reported. However, CNS with both these rare associations has never been previously reported. Here we report a case of CNS with both rare associations, perhaps the first report from India to the best of our knowledge.

Acute renal failure due to acute tubulointerstitial nephritis.

Acute interstitial nephritis (AIN) should be ruled out in children with unexplained acute renal failure. We present a 4 1/2 year old girl who presented with oliguric acute renal failure preceded by a febrile illness. Renal histopathology revealed features of drug induced AIN. She recovered with dialysis, other supportive treatment and a course of steroids.