Alport syndrome
Updates to Article Attributes
Body
was changed:
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-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 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.
-<a title="Sensorineural hearing loss" href="/articles/sensorineural-hearing-loss">sensorineural hearing loss</a>: typically high frequency <sup>2</sup>- +<a href="/articles/sensorineural-hearing-loss">sensorineural hearing loss</a>: typically high frequency <sup>2</sup>
-<li><a href="/articles/oesophageal-leiomyoma">oesophagus</a></li>- +<li><a title="Oesophagus" href="/articles/oesophagus">oesophagus</a></li>
-</ul><h4>Pathology</h4><p>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.</p><h5>Genetics</h5><p>Mutations may be inherited in X-linked dominant (most common), autosomal recessive, or autosomal dominant patterns <sup>7</sup>. In its most common form, males are predictably more severely affected, although females also demonstrate abnormalities <sup>2</sup>.</p><h5>Associations</h5><ul><li>-<a href="/articles/mid-face-hypoplasia">mid face hypoplasia</a> <sup>3</sup>-</li></ul><h4>Radiographic features</h4><h5>Ultrasound</h5><p>Normal size and echotexture in early stage, however advanced disease may show small, shrunken and <a href="/articles/increased-renal-echogenicity">echogenic kidneys</a>.</p><h5>CT</h5><p>Kidneys may be shrunken with delayed or non-excretion of contrast in advanced stages.</p><p>Multiple <a href="/articles/leiomyomas">leiomyomas</a> can be seen in oesophagus <sup>5</sup>, tracheobronchial tree, or uterus.</p><h5>MRI</h5><p>MRI brain may show patchy/nodular lesions in gangliothalamic complexes, with reduced white matter <a href="/articles/normal-myelination">myelination</a><sup> 4</sup>.</p><h4>History and etymology</h4><p>Named for <strong>Arthur Cecil Alport</strong> (1880-1959), an English physician.</p>- +</ul><h4>Pathology</h4><p>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.</p><h5>Genetics</h5><p>Mutations may be inherited in X-linked dominant (most common), autosomal recessive, or autosomal dominant patterns <sup>7</sup>. In its most common form, males are predictably more severely affected, although females also demonstrate abnormalities <sup>2</sup>.</p><h5>Associations</h5><ul><li>
- +<a href="/articles/mid-face-hypoplasia">midface hypoplasia</a> <sup>3</sup>
- +</li></ul><h4>Radiographic features</h4><h5>Ultrasound</h5><p>Normal size and echotexture in early-stage, however advanced disease may show small, shrunken, and <a href="/articles/increased-renal-echogenicity">echogenic kidneys</a>.</p><h5>CT</h5><p>Kidneys may be shrunken with delayed or non-excretion of contrast in advanced stages.</p><p>Multiple <a href="/articles/leiomyomas">leiomyomas</a> can be seen in the oesophagus <sup>5</sup>, tracheobronchial tree, or uterus.</p><h5>MRI</h5><p>MRI brain may show patchy/nodular lesions in gangliothalamic complexes, with reduced white matter <a href="/articles/normal-myelination">myelination</a><sup> 4</sup>.</p><h4>History and etymology</h4><p>Named for <strong>Arthur Cecil Alport</strong> (1880-1959), an English physician.</p>
References changed:
- 7. Jais JP, Knebelmann B, Giatras I, et al. 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. <a href="https://www.ncbi.nlm.nih.gov/pubmed/14514738">Pubmed</a> <span class="ref_v4"></span>
- 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. <a href="https://www.ncbi.nlm.nih.gov/pubmed/14514738">Pubmed</a> <span class="ref_v4"></span>
Unable to process the form. Check for errors and try again.