Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene

Nephrology (Carlton). 2005 Dec;10(6):553-6. doi: 10.1111/j.1440-1797.2005.00481.x.


A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation in exon 7 (A284V) and the non-neutral polymorphism R229Q in exon 5. We review literature supporting the genetic basis of the disease.

Publication types

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

MeSH terms

  • Adult
  • Glomerulosclerosis, Focal Segmental / complications
  • Glomerulosclerosis, Focal Segmental / genetics
  • Glomerulosclerosis, Focal Segmental / pathology
  • Heterozygote*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Kidney / pathology
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Nephrotic Syndrome / etiology
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / pathology


  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • NPHS2 protein