HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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

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.
AuthorsIan S D Roberts, Jonathan M Gleadle
JournalJournal of the American Society of Nephrology : JASN (J Am Soc Nephrol) Vol. 19 Issue 3 Pg. 450-3 (Mar 2008) ISSN: 1533-3450 [Electronic] United States
PMID18216313 (Publication Type: Case Reports, Journal Article)
Chemical References
  • N-Acetylglucosaminyltransferases
  • exostosin-1
Topics
  • Adult
  • Diagnosis, Differential
  • Exostoses, Multiple Hereditary (complications, genetics)
  • Female
  • Frameshift Mutation
  • Humans
  • Kidney Glomerulus (pathology, physiopathology)
  • N-Acetylglucosaminyltransferases (genetics)
  • Nail-Patella Syndrome (diagnosis)
  • Nephrotic Syndrome (complications, genetics, pathology, physiopathology)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: