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Published ahead of print on May 21, 2009
J Am Soc Nephrol 20: 1210-1215, 2009
© 2009 American Society of Nephrology
doi: 10.1681/ASN.2008090984
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Pathophysiology of the Renal Biopsy

The Renal Lesions of Alport Syndrome

Laurence Heidet*,{dagger} and Marie-Claire Gubler*,{ddagger}

* Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte and Inserm U574, {dagger} Service de Néphrologie Pédiatrique, {ddagger} Université René Descartes, Hôpital Necker-Enfants Malades AP-HP, Paris, France

Correspondence: Dr. Marie-Claire Gubler, Inserm U574, Tour Lavoisier 6ème étage, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15. Phone: + 33 1 47 83 90 16; Fax: + 33 1 44 49 02 90; E-mail: marie-claire.gubler{at}inserm.fr

Alport syndrome is a hereditary, progressive, hematuric nephropathy characterized by glomerular basement membrane abnormalities with frequent hearing defects and ocular anomalies. The disease is associated with mutations in genes encoding the {alpha}3, {alpha}4, or {alpha}5 chains of type IV collagen, COL4A3, or COL4A4 in the autosomal forms of the disease, COL4A5 in the more frequent X-linked variety. Ultrastructural changes in the glomerular basement membrane and frequent abnormal expression of type IV collagen chains in renal and skin basement membranes are crucial elements for the diagnosis of Alport syndrome, determination of the mode of inheritance, and genetic counseling. Animal models have provided invaluable tools to study the mechanisms leading to progressive deterioration of the glomerular basement membrane and ultimately to renal failure, and to evaluate benefits of potential targeted therapies.






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Copyright © 2009 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673