Nephrotic syndrome from the genetic point of view

Rev Med Chir Soc Med Nat Iasi. 2009 Oct-Dec;113(4):1107-12.

Abstract

Nephrotic syndrome, an entity described at the beginning of the 20th century, has still an unclear pathophysiology, genetic and immunologic factors being incriminated. Here we report three cases of nephrotic syndrome with genetic involvement. The article presented tremendous progress that have been made over the past few years in enhancing our understanding of the slit-diaphragm and podocyte biology and genetics involvement in nephrotic syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Consanguinity
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Introns
  • Male
  • Membrane Proteins / genetics*
  • Nephrotic Syndrome / drug therapy
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / physiopathology
  • Sequence Deletion / genetics

Substances

  • Membrane Proteins
  • nephrin