Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation

J Am Soc Nephrol. 2008 Mar;19(3):450-3. doi: 10.1681/ASN.2007080842. Epub 2008 Jan 23.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Exostoses, Multiple Hereditary / complications
  • Exostoses, Multiple Hereditary / genetics*
  • Female
  • Frameshift Mutation
  • Humans
  • Kidney Glomerulus / pathology
  • Kidney Glomerulus / physiopathology
  • N-Acetylglucosaminyltransferases / genetics*
  • Nail-Patella Syndrome / diagnosis
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / pathology
  • Nephrotic Syndrome / physiopathology


  • N-Acetylglucosaminyltransferases
  • exostosin-1