Alport syndrome

Alport syndrome is an X-linked recessive disease characterised by: 

  • haematuria
  • sensory neural hearing loss: typically high frequency 2
  • ocular abnormalities 
    • anterior lenticonus: most common ocular abnormality; may result in cataracts
    • perimacular pigmentary changes
    • flecks around the fovea 2
  • multiple leiomyomas 1-2
    • oesophagus
    • tracheobronchial tree
    • female genitalia

Pathology

It is the result of mutation in collagen type IV, which is found in the basement membrane of the glomerulus, the cochlea and the eye. 

Males are predictably more severely affected, although females also demonstrate abnormalities 2.

Associations

Radiographic features

Ultrasound

Normal size and echotexture in early stage, however advanced disease may show small, shrunken and echogenic kidneys.

CT

Kidneys may be shrunken with delayed or non-excretion of contrast in advanced stages.

Multiple leiomyomas can be seen in oesophagus 5, tracheobronchial tree, or uterus.

MRI

MRI brain may show patchy/nodular lesions in gangliothalamic complexes, with reduced white matter myelination 4.

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Article information

rID: 11100
Section: Syndromes
Synonyms or Alternate Spellings:
  • Alport's syndrome

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Cases and figures

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