Definition
Alport Syndrome is a genetic heterogeneous disease charachterized by affection of basement membranes in kidney, ear and eye. 85% is X-linked dominant and 15% autosomal recessive and dominant. It ocurrs in less than 1:5000 and heterozygous can also have a risk of chronic kidney disease
In AS the collagen IV α345 network is impaired. The earliest clinical manifestation is hematuria. The lens capsule in AS is also attenuated and can’t maintain normal shape, causing lenticonus. The mechanism of hearing loss remains uncertain.
Why to perform genetic testing in cases with suspected AS?
- To confirm the diagnosis
- To better perform risk stratification and prognosis
- To select the best therapeutic option for that spcific patient based on the genotype
- To identify other relatives at risk to develop the disease
Our AS panel
COL4A5, COL4A3, COL4A4
Important: All our panels can be modified based on the phenotype. Please contact us if you have questions
What to expect from this test: Up to 95% of the patients with suspected AS can be confirmed.
Recommended Literature
- Lee JM et al. Features of Autosomal Recessive Alport Syndrome: A Systematic Review. J Clin Med. 2019 Feb 3;8(2)
- Tsan SH, et al. Extracellular Matrix: Alport Syndrome. Adv Exp Med Biol. 2018;1085:197-198.
- Savige J et al., Alport Syndrome in Women and Girls. Clin J Am Soc Nephrol. 2016 Sep 7;11(9):1713-20.
Download here interesting open access manuscripts on AS