Alport syndrome is an X-linked dominant disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
- sensorineural hearing loss: typically high frequency 2
- ocular abnormalities
- multiple leiomyomas 1,2
- 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 esophagus 5, tracheobronchial tree, or uterus.
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.
- 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
- 6. William Alexander Newman Dorland. Dorland's Illustrated Medical Dictionary. (2018)
- 7. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. (2003) Journal of the American Society of Nephrology : JASN. 14 (10): 2603-10. Pubmed