Alport syndrome

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

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 the esophagus 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.

Article information

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

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Cases and figures

  • Case 1
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