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

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Abstract

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.

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Authors and Affiliations

  1. Inserm, U983, Hôpital Necker-Enfants Malades, Paris, France

    Geneviève Benoit, Eduardo Machuca & Corinne Antignac

  2. CHU Sainte-Justine, Université de Montréal, Montréal, Canada

    Geneviève Benoit

  3. Pontificia Universidad Católica de Chile, Escuela de Medicina, Santiago, Chile

    Eduardo Machuca

  4. Faculté de Médecine Paris Descartes, Université Paris Descartes, Paris, France

    Corinne Antignac

  5. Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

    Corinne Antignac

  6. Inserm, U983, 6e étage, Tour Lavoisier, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015, Paris, France

    Corinne Antignac

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  1. Geneviève Benoit
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Correspondence to Corinne Antignac.

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Benoit, G., Machuca, E. & Antignac, C. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 25, 1621–1632 (2010). https://doi.org/10.1007/s00467-010-1495-0

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