Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology
1 Inserm, U574 and 2 Assistance Publique-Hôpitaux de Paris (AP-HP), Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France, 3 Pontificia Universidad Católica de Chile, Escuela de Medicina, Santiago, Chile, 4 CHU Sainte-Justine, Université de Montréal, Montreal, Canada and 5 Faculté de Médecine Paris Descartes, Université Paris Descartes, Paris, France
* To whom correspondence should be addressed at: Inserm, U574, 6ème étage, Tour Lavoisier, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France, Tel: +33 144494552; Fax: +33 144490290; Email: corinne.antignac{at}inserm.fr
Received July 4, 2009; Revised July 4, 2009; Accepted July 16, 2009
Urinary losses of macromolecules in nephrotic syndrome (NS) reflect a dysfunction of the highly permselective glomerular filtration barrier. Genetic studies of hereditary forms of NS have led to the identification of proteins playing a crucial role in slit-diaphragm signalling, regulation of actin cytoskeleton dynamics, maintenance of podocyte integrity and cell–matrix interactions. This review will focus on recent molecular and clinical findings in the field of genetics of NS, thereby providing a better understanding of the complex glomerular filtration barrier physiology.
The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.