Diagnosis of Alport Syndrome

The diagnosis of Alport syndrome is based on careful evaluation of the patient's clinical features, family history and results of tissue biopsies. Alport syndrome produces unique changes in the walls of the blood vessels of the glomeruli that can be detected by electron microscopy of kidney biopsy material. Kidney biopsies can also be tested for the presence or absence of the type IV collagen alpha-3, alpha-4 and alpha-5 chains. This information is often very helpful in confirming a suspected diagnosis of Alport syndrome. Skin biopsy can be used to diagnose X-linked Alport syndrome. The type IV collagen alpha-5 chain is normally present in the skin. In most males with X-linked Alport syndrome the alpha-5 chain is completely missing from the skin.

In some people with hematuria it is difficult to determine whether they have Alport syndrome or Thin Basement Membrane Nephropathy, even after kidney biopsy, because these conditions can have a very similar appearance, especially in children. In these cases the true diagnosis may not become clear until years later.

It is possible to diagnosis Alport syndrome by examining the alpha-3, alpha-4 and alpha-5 chain genes.

Genetic testing information can be found on the Gene Tests website: http://www.ncbi.nlm.nih.gov/sites/GeneTests/review/disease/alport?d...ts&search_param=contains.

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