Alport syndrome is an X-linked recessive disease characterised by:
- 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
- tracheobronchial tree
- female genitalia
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.
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.
- 1. Nissenson AR, Berns JS, Lerma E. CURRENT Diagnosis & Treatment Nephrology & Hypertension. McGraw-Hill Professional. (2008) ISBN:0071447873. Read it at Google Books - Find it at Amazon
- 2. Kunst D, Kremer H, Cremers C. Genetics for ENT specialists. Remedica Pub Ltd. (2005) ISBN:1901346641. Read it at Google Books - Find it at Amazon
- 3. Rodriguez JD, Bhat SS, Meloni I et-al. Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. Am. J. Med. Genet. A. 2010;152A (3): 713-7. doi:10.1002/ajmg.a.33208 - Pubmed citation
- 4. Sener RN. Hereditary nephritis (Alport syndrome): MR imaging findings in the brain. Comput Med Imaging Graph. 22 (1): 71-2. Comput Med Imaging Graph (link) - Pubmed citation
- 5. Rabushka LS, Fishman EK, Kuhlman JE et-al. Diffuse esophageal leiomyomatosis in a patient with Alport syndrome: CT demonstration. Radiology. 1991;179 (1): 176-8. Radiology (abstract) - Pubmed citation