How is Alport’s syndrome diagnosed?

1. Family screening

An explanation of which family members should be screened is given later (click here). If someone is to be screened because of a family history, it may only be necessary to check the urine for blood. This can be done by taking a small sample of urine and dipping into it on a small plastic stick. Alport’s syndrome causes small amounts of blood to appear in the urine from a very early age. This test is not completely foolproof - a negative urine test may need to be repeated several times to be sure there is no blood, and blood can be present for other reasons, such as a urine infection.

2. Kidney biopsy

Alport’s syndrome causes a unique appearance when the kidney is examined under the microscope. The membrane that filters blood to make urine is split into several layers. Splitting is generally seen in men and in some women. Sometimes the membrane may just be very thin, which can make it more difficult to diagnose Alport’s syndrome.

If someone with a known family history of Alport’s syndrome has blood in the urine, it is usually not necessary to perform a kidney biopsy. However, in some cases where the diagnosis is not proven, it may be necessary. Kidney biopsy carries a small risk of bleeding. For more information click here.

3. Genetic testing

The genetic abnormalities in the COL4A5 gene that cause Alport’s (for an explanation of what the COL4A5 is, click here) were first described in the 1980s, but it has proved very difficult to use genetic tests to diagnose Alport’s syndrome. The problem is that many different (well over 50) genetic abnormalities can cause Alport’s, and these differ from family to family. Genetic tests looking for a single genetic abnormality are relatively easy to perform. If it is possible to determine which genetic abnormality is present in a particular family, testing is possible.

Technology is available to perform tests on human embryos in the laboratory, so that the production of a child without Alport’s syndrome can be guaranteed. However, these techniques mean that the human egg has to be fertilised ‘in vitro’, in other words a ‘test tube baby’.

If you want to know more about genetic testing, you should consult a kidney specialist and a genetic specialist for up to date information.

4. Diagnosis if typical eye abnormalities are found

Sometimes Alport’s syndrome is diagnosed after an eye specialist has noticed the unusual eye problems that Alport’s can cause. Also,high tone deafness in someone with a family history of kidney trouble may alert a doctor to the possibility of Alport’s syndrome.

NKF Controlled Document No. 50, How is Alport’s syndrome diagnosed?, written 2 September 2002. Last reviewed 27 October 2008.

The National Kidney Federation cannot accept responsibility for information provided. The above is for guidance only. Patients are advised to seek further information from their own doctor.

The National Kidney Federation is registered in England and Wales as a Company limited by guarantee (Company No 5272349)
and awarded charitable status (Charity Number 1106735).

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Page created: 2 September 2002

Last updated: 29 April 2009

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