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J Am Soc Nephrol 14:S22-S26, 2003
© 2003 American Society of Nephrology

Podocyte Differentiation and Hereditary Proteinuria/Nephrotic Syndromes

Marie-Claire Gubler

INSERM U423, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France.

Correspondence to Dr. Marie Claire Gubler, INSERM U 423, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France; Phone: 33-1-47-83-90-16; Fax: 33-1-44-49-02-90;

ABSTRACT. The study of familial nephrotic syndromes (NS) and the analysis of murine models of glomerular diseases resulted in major progresses in the knowledge of podocyte physiology and pathology. Numerous proteins participating in the composition of the slit diaphragm region have been identified. The importance of several of them (nephrin, podocin, CD2AP, and Neph1) in the maintenance of the glomerular filtration barrier has been demonstrated by the occurrence of massive proteinuria when they are defective. The role of the cytoskeleton has been revealed by the development of proteinuria/NS in patients with ACTN4 mutation and the occurrence of early and severe NS in {alpha}-actinin-4–deficient mice. Given the genetic heterogeneity of familial NS and the many other genes to be identified, further insights in the molecular basis of the role of the podocyte in the maintenance of the glomerular filtration barrier may be expected in the near future. E-mail: gubler@necker.fr




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