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Published ahead of print on January 23, 2008
J Am Soc Nephrol 19: 450-453, 2008
© 2008 American Society of Nephrology
doi: 10.1681/ASN.2007080842
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Pathophysiology of the Renal Biopsy

Familial Nephropathy and Multiple Exostoses With Exostosin-1 (EXT1) Gene Mutation

Ian S. D. Roberts* and Jonathan M. Gleadle{dagger}

* Department of Cellular Pathology, John Radcliffe Hospital, Headley Way, Headington, Oxford, United Kingdom; and {dagger} Renal Unit, Level 6, Flinders Medical Centre, Bedford Park, South Australia, Australia

Correspondence: Dr. Ian S. D. Roberts, Department of Cellular Pathology, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, United Kingdom. Phone: +44 (0)1865 222889; Fax: +44 (0)1865 220519; E-mail: ian.roberts{at}orh.nhs.uk

Glomerular deposition of fibrillar collagen is a characteristic finding of genetically distinct conditions, including nail-patella syndrome and collagen type III glomerulopathy. A case of familial nephropathy in which steroid-sensitive nephrotic syndrome and glomerular deposits of fibrillar collagen are associated with multiple exostoses due to mutation of the EXT1 gene is described. This gene encodes a glycosyltransferase required for synthesis of heparan sulfate glycosaminoglycans. There is deficiency of heparan sulfate and perlecan, together with accumulation of collagens, in the matrix of EXT1-associated osteochondromas. Similar glomerular basement membrane abnormalities could offer an explanation for both the renal ultrastructural changes and steroid-sensitive nephrotic syndrome.






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Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673