GTR Home > Conditions/Phenotypes > Alport syndrome, autosomal dominant

Disease characteristics

Excerpted from the GeneReview: Alport Syndrome and Thin Basement Membrane Nephropathy
Alport syndrome (AS) is characterized by renal, cochlear, and ocular involvement. Renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with X-linked (XL) AS, and in all males and females with autosomal recessive (AR) AS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. Thin basement membrane nephropathy (TBMN) is characterized by persistent microscopic hematuria often first observed in childhood; progressive renal involvement and extrarenal abnormalities are rare.

Associated genes

Clinical features

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  • Hematuria
  • Proteinuria
  • Hypertension
  • Glomerulonephritis
  • Nephrotic syndrome
  • Nephrocalcinosis
  • Sensorineural hearing impairment
  • Myopia
  • Anterior polar cataract
  • Lenticonus
  • Hypophosphatemia
  • Azotemia
  • Stage 5 chronic kidney disease
  • Thickening of the glomerular basement membrane
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