Alport syndrome
Alport syndrome is an X-linked dominant disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
Clinical presentation
- hematuria
- sensorineural hearing loss: typically high frequency
- ocular abnormalities
- anterior lenticonus: most common ocular abnormality; may result in cataracts
- perimacular pigmentary changes
- flecks around the fovea
- multiple leiomyomas
- esophagus
- 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 . In its most common form, males are predictably more severely affected, although females also demonstrate abnormalities .
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 the esophagus , tracheobronchial tree, or uterus.
MRI
MRI brain may show patchy/nodular lesions in gangliothalamic complexes, with reduced white matter myelination.
History and etymology
Named for Arthur Cecil Alport (1880-1959), an English physician.
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Assoziationen und Differentialdiagnosen zu Alport syndrome:
