Educational paper: the podocytopathies

Eur J Pediatr. 2012 Aug;171(8):1151-60. doi: 10.1007/s00431-011-1668-2. Epub 2012 Jan 13.


In the recent past, hereditary podocytopathies have increasingly been recognized to be involved in the development of steroid-resistant nephrotic syndrome (SRNS). Mutations in podocyte genes substantially alter the development and structural architecture of the podocyte including its interdigitating foot processes. These constitute the basis of the slit diaphragm which is an essential part of the glomerular filtration barrier. Depending on the affected protein, the clinical course is variable with respect to onset and severity of the disease as well as treatment options. In general, hereditary podocytopathies are associated with a poorer renal outcome than the non-genetic variants. In addition, they require a different approach with respect to the applied therapeutic strategies as most patients do not respond to immunosuppressive agents. Therefore, genetic testing of podocyte genes should be considered as a routine diagnostic tool for patients with SRNS because the identification of a genetic origin has a direct implication on clinical course, renal outcome, and genetic counseling. In this educational paper, we will give an overview over the podocyte genes identified so far to be involved into the pathophysiology of hereditary podocytopathies.

Publication types

  • Review

MeSH terms

  • Genetic Counseling
  • Genetic Markers*
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Kidney Transplantation
  • Mutation
  • Nephrotic Syndrome / drug therapy
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / pathology
  • Nephrotic Syndrome / surgery
  • Podocytes / pathology*


  • Genetic Markers
  • Immunosuppressive Agents