Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation

Pediatr Nephrol. 2009 Oct;24(10):2051-3. doi: 10.1007/s00467-009-1211-0. Epub 2009 Jun 3.


Autosomal recessive steroid-resistant nephrotic syndrome (NS) is a rare, genetically determined nephropathy caused mainly by a mutation in the NPHS2 gene. This type of NS is usually resistant to other immunosuppressive therapy as well, but a few cases of cyclosporine A-induced partial remission of inherited NS have been reported. We present a boy that developed NS at the age of 18 months. There was no decrease of proteinuria on standard prednisolone therapy, and a diagnosis of steroid-resistant NS was established. However, the proteinuria decreased significantly following the initiation of cyclosporine A therapy (from 1280 to 380 mg/m(2) per day) without any negative effects on renal function (stable glomerular filtration rate 130-150 ml/min per 1.73 m(2)). The molecular genetic test revealed a homozygous R138Q mutation in the NPHS2 gene. Our case demonstrates that cyclosporine A can induce partial remission in patients with genetic forms of NS without influencing the glomerular filtration rate. However, its long-term effect and safety in children with hereditary forms of nephrotic syndrome have yet to be investigated.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cyclosporine / therapeutic use*
  • Humans
  • Immunosuppressive Agents / therapeutic use*
  • Infant
  • Male
  • Nephrotic Syndrome / congenital
  • Nephrotic Syndrome / drug therapy*
  • Nephrotic Syndrome / genetics
  • Remission Induction
  • Transcription Factors / genetics*


  • INVS protein, human
  • Immunosuppressive Agents
  • Transcription Factors
  • Cyclosporine