Alport syndrome (AS) is a genetic condition mainly affecting the kidneys but also affecting hearing, often causing deafness. Hearing difficulty in boys is often noticed around the age of ten and it gradually deteriorates over a decade or more. As for the kidney disease, the first sign is blood in the urine which is often at a microscopic level, meaning it is only detectable via dipstick testing. Protein in the urine develops later and then impairment of the kidney function itself. Most men with AS develop kidney failure in their twenties or thirties. In some adult patients, AS may affect the eyes in various ways although this is mild in most cases, usually not affecting eyesight.
In ‘classical AS’, the inheritance is X-linked, meaning males are affected, with females generally having much less severe disease with later onset disease compared to males, or merely being ‘carriers’, meaning they harbour a gene mutation but do not manifest the disease. Apart from classical X-linked AS, the less common causes lead to males and females being affected equally. There are some medications, such as ACE inhibitors, which can slow down the deterioration of kidney function, and other drugs being developed or in clinical trials. When patients with AS reach end stage kidney failure, they are generally excellent candidates for kidney transplantation.
Find out more
If you would like to learn more about Alport Syndrome visit the Rare Renal website.
If you have AS your experience would be valuable resource for those planning diagnostic methods and future treatments of rare kidney disease. If you are happy to share your experience with the team at RaDaR (National Registry of Rare Kidney Diseases) who focus their research on rare kidney diseases. You can contact RaDaR via the Rare Renal website.