Alport syndrome
Updates to Article Attributes
Alport syndrome is an X-linked dominant disease characterised by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
Clinical presentation
- haematuria
- sensorineural 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 a mutation in collagen type IV, which is found in the basement membrane of the glomerulus, the cochlea and the eye.
Genetics
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.
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.
History and etymology
Named for Arthur Cecil Alport (1880-1959), an English physician.
-<li>ocular abnormalities <ul>- +<li>ocular abnormalities<ul>
-<a href="/articles/lenticonus">anterior lenticonus</a>: most common ocular abnormality; may result in <a href="/articles/cataract">cataracts</a>- +<a title="Anterior lenticonus" href="/articles/anterior-lenticonus">anterior lenticonus</a>: most common ocular abnormality; may result in <a href="/articles/cataract">cataracts</a>
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