Alport syndrome

Alport syndrome is an X-linked dominant disease characterised by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.

  • haematuria
  • sensorineural hearing loss: typically high frequency 2
  • ocular abnormalities 
  • multiple leiomyomas 1,2
    • oesophagus
    • tracheobronchial tree
    • female genitalia

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

Mutations may be inherited in X-linked dominant (most common), autosomal recessive, or autosomal dominant patterns 7. In its most common form, males are predictably more severely affected, although females also demonstrate abnormalities 2.

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

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

Named for Arthur Cecil Alport (1880-1959), an English physician.

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Article information

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

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