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Idiopathic Nephrotic Syndrome in Children: Genetic Aspects

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Pediatric Nephrology

Abstract

Over the last decades, screening of large cohorts of pediatric patients presenting with steroid-resistant nephrotic syndrome (SRNS) for gene mutations has revealed the importance of genetic disorders in the pathogenesis of proteinuric glomerulopathies. Genetic forms of nephrotic syndrome have been considered as infrequent disorders; however, at least 66 % of the cases presenting with SRNS during the first year of life [1] and up to 30 % of SRNS cases with an onset below 25 years of age have an underlying monogenic defect [2]. From a clinical perspective, theoretically all patients with hereditary SRNS will be resistant to immunosuppressive agents and will not experience relapse after transplantation [3–5]. Whereas partial remission may be achieved under cyclosporin A, shown to stabilize the podocyte actin cytoskeleton in vitro through the synaptopodin pathway [6], such treatment cannot induce complete remission in SRNS related to podocyte gene mutations [4, 7–10].

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Authors and Affiliations

  1. Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Université Paris-Descartes, Paris, France

    Olivia Boyer

  2. Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Paris, France

    Kálmán Tory & Corinne Antignac

  3. Paris Descartes, Sorbonne Paris Cité University, Imagine Institute, Paris, France

    Corinne Antignac

  4. Department of Pediatrics, Semmelweis University, Budapest, Hungary

    Kálmán Tory

  5. Department of Nephrology, Medical School, Pontificia Universidad Católica de Chile, Santiago, Chile

    Eduardo Machuca

  6. Department of Genetics, MARHEA reference center, Necker – Enfants Malades Hospital, Paris, France

    Corinne Antignac

Authors
  1. Olivia Boyer
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  2. Kálmán Tory
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  3. Eduardo Machuca
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  4. Corinne Antignac
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Corresponding author

Correspondence to Corinne Antignac .

Editor information

Editors and Affiliations

  1. Department of Pediatrics, Medical College of Wisconsin, Children’s Research Institute, Children’s Hospital, Health System of Wisconsin, Milwaukee, Wisconsin, USA

    Ellis D. Avner

  2. Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

    William E. Harmon

  3. Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Université Paris-Descartes, Paris, France

    Patrick Niaudet

  4. Department of Pediatrics, Wakayama Medical University, Wakayama City, Japan

    Norishige Yoshikawa

  5. Division of Nephrology, Bambino Gesù Children’s Hospital – IRCCS, Rome, Italy

    Francesco Emma

  6. Division of Nephrology and Hypertension, The Heart Institute, Cincinnati Children’s Hospital Medical Center, College of Medicine, Cincinnati, Ohio, USA

    Stuart L. Goldstein

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© 2016 Springer-Verlag Berlin Heidelberg

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Boyer, O., Tory, K., Machuca, E., Antignac, C. (2016). Idiopathic Nephrotic Syndrome in Children: Genetic Aspects. In: Avner, E., Harmon, W., Niaudet, P., Yoshikawa, N., Emma, F., Goldstein, S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-43596-0_23

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  • DOI: https://doi.org/10.1007/978-3-662-43596-0_23

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  • Print ISBN: 978-3-662-43595-3

  • Online ISBN: 978-3-662-43596-0

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