Alport syndrome

external

• Causes

  • Goodpasture antigen mutation

• Effects

  • Hereditary nephritis
  • Haematuria
  • Proteinuria
  • Secondary nephrotic glomerular disease
  • Chronic renal failure
  • Congenital cataract
  • Dislocation of lens
  • Myopia
  • Retinitis pigmentosa85.0%
  • Congenital deafness
  • Sensorineural deafness
  • Tracheobronchial leiomyomatosis
  • Macrothrombocytopaenia
  • Hyperprolinaemia
  • Alport's triad
  • Lenticonus
  • Corneal arcus

• Parents

  • Genetic collagen disease
  • X-linked dominant disorder
  • Autosomal dominant disorder
  • Congenital renal disease

• Description

  • "usually X linked dominant thinning and splitting of glomerular basement membrane 5% develop anti-GBM after transplant Mutation of genes in collagen synthesis: Defective basement membranes in the kidney
  • inner ear
  • and eye."