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Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

Authors

  • Geneviève Benoit,

    1. Inserm, U983, Hôpital Necker-Enfants Malades, Paris, France.
    2. CHU Sainte-Justine, Université de Montréal, Canada.
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  • Eduardo Machuca,

    1. Inserm, U983, Hôpital Necker-Enfants Malades, Paris, France.
    2. Pontificia Universidad Católica de Chile, Escuela de Medicina, Chile.
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  • Laurence Heidet,

    1. Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
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  • Corinne Antignac

    1. Inserm, U983, Hôpital Necker-Enfants Malades, Paris, France.
    2. Université Paris Descartes, Faculté de Médecine Paris Descartes, Paris, France.
    3. Assistance Publique-Hôpitaux de Paris (AP-HP), Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France
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Address for correspondence: Corinne Antignac, M.D., Ph.D., Inserm, U983, 6eétage, Tour Lavoisier, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.corinne.antignac@inserm.fr

Abstract

A Mendelian inheritance underlies a nonnegligible proportion of hereditary kidney diseases, suggesting that the encoded proteins are essential for maintenance of the renal function. The identification of genes involved in congenital anomalies of the kidney and in familial forms of nephrotic syndrome significantly increased our understanding of the renal development and kidney filtration barrier physiology. This review will focus on the classical phenotype and clinical heterogeneity observed in the monogenic forms of these disorders. In addition, the role of susceptibility genes in kidney diseases with a complex inheritance will also be discussed.

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