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Alport Syndrome is an inherited condition causing kidney disease and deafness.  It is named after Dr Cecil Alport who identified it in 1927. It affects boys and men more commonly than girls and women. We have a longer, fuller account on another page

What does Alport Syndrome do?

In infancy you may see blood in urine, but kidney function and hearing are normal.  Abnormalities usually develop in later childhood and get more severe in teens or twenties.  The average age of kidney failure for those with the most severe disease is nearly 30, but some need dialysis or a transplant at half that age.

The deafness is never total, and is helped by hearing aids. 

Eye changes can occur but rarely affect vision. 

How is it inherited?

In about 9 out of 10 patients Alport Syndrome is inherited from a mistake on the X chromosome.  Men (XY) have only one X chromosome, so in these families they are usually more severely affected than women, who have two copies of the X chromosome (XX).  While most of these 'carriers' never develop severe kidney disease or deafness, some do at some point in their lives. 

The remaining 1 in 10 have the same disease from mistakes in two genes on another chromosome.  They have usually inherited one mistake from each parent. 

How is it treated?

ACE inhibitor tablets may slow down the worsening of kidney function.  Worth taking if you have a protein leak into the urine.

Patienst who develop severe kidney failure do well on dialysis and even better with a transplant. 

Avoid exposure to much loud sound to protect hearing

More info?

See our longer page on Alport Syndrome

 

Acknowledgements:  The author of this page was Neil Turner. It was first published in March 2013. The date it was last modified is shown in the footer.

Licensed under a Creative Commons LicenseCreative Commons Attribution 4.0 International License.

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This page last modified 16.03.2013 15:30 by ANT. edren and edrep are produced by the Renal Unit at the Royal Infirmary of Edinburgh and the University of Edinburgh. CAUTIONS and Contact us.