Inherited diseases of the glomerular basement membrane

Am J Kidney Dis. 1994 Apr;23(4):605-18. doi: 10.1016/s0272-6386(12)80387-8.

Abstract

The inherited diseases of the glomerular basement membrane include Alport's syndrome (AS), nail-patella syndrome, and thin basement membrane nephropathy. Classical AS is inherited in an X-linked manner and accounts for approximately 85% of the cases. Its manifestations include hematuria, sensorineural hearing loss, ocular defects, and a progression to renal failure. A defect(s) in the alpha 5 (IV) chain of type IV collagen is believed to be the etiology of classic AS, and alterations in its encoding gene localized to the X-chromosome have been elucidated. Although isolated cases of anti-glomerular basement membrane glomerulonephritis have been reported following renal transplantation in patients with AS, it is considered an effective form of renal replacement therapy. Less is known regarding the genetic basis of the autosomal-dominant form of AS, which apparently accounts for the remaining 15% of the cases. Nail-patella syndrome is characterized by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy. It is inherited in an autosomal-dominant fashion with the gene locus assigned to the long arm of chromosome 9. Possible linkage between the COL5A1 gene and the gene for nail-patella syndrome has been suggested. Approximately 30% of the patients progress to end-stage renal failure. Renal transplantation has been successful in treating patients who progress to end-stage renal failure. Thin basement membrane nephropathy is an autosomal dominant trait that accounts for approximately 30% of the cases presenting as persistent, asymptomatic hematuria. The cause of thin basement membrane nephropathy is unknown at present. No decline in renal function is associated with thin basement membrane nephropathy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Autoantigens / immunology
  • Basement Membrane / immunology
  • Basement Membrane / pathology
  • Basement Membrane / ultrastructure
  • Collagen / immunology
  • Collagen Type IV*
  • Female
  • Humans
  • Kidney Glomerulus / immunology
  • Kidney Glomerulus / pathology*
  • Kidney Glomerulus / ultrastructure
  • Male
  • Nail-Patella Syndrome / genetics
  • Nail-Patella Syndrome / pathology
  • Nephritis, Hereditary / genetics
  • Nephritis, Hereditary / immunology
  • Nephritis, Hereditary / pathology*

Substances

  • Autoantigens
  • Collagen Type IV
  • type IV collagen alpha3 chain
  • Collagen