• Journal of nephrology · Nov 2002

    Review

    Monogenic renal diseases: a clinical introduction.

    • Jean-Pierre Grünfeld.
    • Université Paris V-René Descartes, Service de Néphrologie, Hôpital Necker, Paris, France. jean-pierregrunfeld@nck.ap-hop-paris.fr
    • J. Nephrol. 2002 Nov 1;15 Suppl 6:S43-6.

    AbstractThe clinical spectrum of monogenic renal diseases is wide ranging, from autosomal dominant polycystic kidney disease to very rare inherited disorders. The genes involved in most of these diseases have been identified. However some monogenic diseases are still not characterized clinically. The challenges of the future will be to understand phenotypic variability and the molecular mechanisms of disease, and to design pharmacological tools to stop or retard its progression. The post-gene era has begun and the field of research in monogenic disorders is wide open.

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