Open AccessFamilial Nephropathy and Multiple Exostoses With Exostosin-1 (EXT1) Gene Mutation
Author(s) -
Ian Roberts,
Jonathan Gleadle
Publication year - 2008
Publication title -
journal of the american society of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.451
H-Index - 279
eISSN - 1533-3450
pISSN - 1046-6673
DOI - 10.1681/asn.2007080842
Subject(s) - glomerulopathy , glomerular basement membrane , perlecan , heparan sulfate , nephrotic syndrome , nephropathy , glomerulonephritis , basement membrane , glycosaminoglycan , biology , endocrinology , medicine , kidney , microbiology and biotechnology , biochemistry , diabetes mellitus
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.