Familial hematurias: what we know and what we don't

Pediatr Nephrol. 2005 Aug;20(8):1027-35. doi: 10.1007/s00467-005-1859-z. Epub 2005 Apr 27.


Over the past 30 years we have learned a great deal about the molecular genetics and natural history of familial forms of hematuria. Our enhanced understanding of these conditions has yet to generate effective therapies for Alport syndrome, the form of familial hematuria associated with end-stage renal disease. This review briefly presents the current state of knowledge about familial hematuria and argues for the organization of clinical therapeutic trials in Alport syndrome.

Publication types

  • Editorial
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Collagen Type IV / analysis
  • Collagen Type IV / genetics
  • Disease Models, Animal
  • Female
  • Hematuria / genetics*
  • Humans
  • Immunohistochemistry
  • Male
  • Nephritis, Hereditary / complications*
  • Nephritis, Hereditary / diagnosis
  • Nephritis, Hereditary / genetics
  • Nephritis, Hereditary / therapy


  • Collagen Type IV