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.
Key wordsIndia Nephrotic syndrome Podocin Steroid resistance
Unable to display preview. Download preview PDF.
- 4.Ruf GR, Lichtenberger A, Karle MS, Haas PJ, Anacleto EF, Schultheiss M, et al. Patients with mutations in NPHS2 (Podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol. 2004;15:722-32.Google Scholar
- 7.Indian Society of Pediatric Nephrology. Management of steroid resistant nephrotic syndrome. Indian Pediatr. 2009;46:35–47.Google Scholar