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Today, 09 February 2010

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Question

My two sons, aged eight and ten have Alport syndrome. Is there anything I can do to keep their kidney's healthy? Please may I have some general information about the disease?

Answer

Alport syndrome is the most common of several types of what are called hereditary nephritis. Nephritis is a non-specific term to describe inlfammation of the kidneys which can result from a number of different causes.

Alport syndrome shows marked variation in the symptoms which occur, the course of the disease, the underlying problem with the cells of the kidney, and the way in which it is inherited.

Those with Alport syndrome often have no symptoms, but microscopic amounts of blood are found in their urine if it is examined. They sometimes have large amounts of blood in the urine which can be seen.

A small number of patients also have deafness, and about ten percent have eye abnormalities as well.

The disease is usually inherited through the mother and affects boys more than girls, but this is not always the case. Up to 20% of those with Alport syndrome have no family history of the disease, suggesting that it arose by spontaneous genetic mutation.

If kidney function deteriorates then high blood pressure, urinary tract infections and the signs of chronic renal failure occur.

There is nothing specific which you can do to keep their kidney's healthy, but you must make sure that they are seen regularly by their paediatrician to make sure that there is no deterioration in kidney function. If that starts to happen, you will be advised on the appropriate course of action.

There is no specific treatment, but patients with this syndrome are good candidates for kidney dialysis and transplants.

Genetic counseling involving the whole family is a good idea, to limit the spread of the illness.