How is Alport Syndrome diagnosed?

Currently, diagnosis of Alport Syndrome relies 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. An alternative diagnostic procedure is skin biopsy. The type IV collagen alpha-5 chain is normally present in the skin. In most men with the X-linked form of Alport Syndrome the alpha-5 chain is completely missing from the skin.