Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation |
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Authors: | Roberts Ian S D Gleadle Jonathan M |
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Institution: | Department of Cellular Pathology, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, United Kingdom. ian.roberts@orh.nhs.uk |
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Abstract: | 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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