Pediatric Nephrology

, Volume 25, Issue 9, pp 1621–1632 | Cite as

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

  • Geneviève Benoit
  • Eduardo Machuca
  • Corinne Antignac


Several genes have been implicated in genetic forms of nephrotic syndrome occurring in children. It is now known that the phenotypes associated with mutations in these genes display significant variability, rendering genetic testing and counselling a more complex task. This review will focus on the recent clinical findings associated with those genes known to be involved in isolated steroid-resistant nephrotic syndrome in children and, thereby, propose an approach for appropriate mutational screening. The recurrence of proteinuria after transplantation in patients with hereditary forms of nephrotic syndrome will also be discussed.


Hereditary glomerular disorders Nephrotic syndrome NPHS1 NPHS2 Steroid resistance 


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Copyright information

© IPNA 2010

Authors and Affiliations

  • Geneviève Benoit
    • 1
    • 2
  • Eduardo Machuca
    • 1
    • 3
  • Corinne Antignac
    • 1
    • 4
    • 5
    • 6
  1. 1.Inserm, U983 Hôpital Necker-Enfants MaladesParisFrance
  2. 2.CHU Sainte-JustineUniversité de MontréalMontréalCanada
  3. 3.Pontificia Universidad Católica de ChileEscuela de MedicinaSantiagoChile
  4. 4.Faculté de Médecine Paris DescartesUniversité Paris DescartesParisFrance
  5. 5.Département de Génétique, Hôpital Necker-Enfants MaladesAssistance Publique-Hôpitaux de Paris (AP-HP)ParisFrance
  6. 6.Inserm, U983, 6e étage, Tour LavoisierHôpital Necker-Enfants MaladesParisFrance

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