What is Alport syndrome? 10 facts about a genetic disease that causes kidney disease

In addition to being National Kidney Month, March is also Alport Awareness Month, which spreads awareness of a rare genetic disease called Alport syndrome. It is appropriate that Alport Awareness Month is the same month as National Kidney Month because Alport syndrome always causes kidney disease. The exact number of people who are living with Alport syndrome is not known, but the National Library of Medicine estimates that only 1 in 50,000 newborns has the disease and the Alport Syndrome Foundation says fewer than 200,000 people in the U.S. have it, making it a rare disease.

While Alport syndrome may be rare, it can be a challenging reality for the tens of thousands of people living with it. To help spread awareness for those people and for people who may be at risk, here are 10 facts about Alport syndrome.

1. Alport syndrome is a genetic condition that is passed from parent to child through the X-chromosome. This is one of the two chromosomes that determines if someone is born biologically male (when you have one X and one Y chromosome) or female (when you have two X chromosomes). However, it can occur spontaneously, which means you may be the first person in your family to have it. 
2. Alport syndrome is caused by mutations (or changes) in the COL4A3, COL4A4, and COL4A5 genes, which are part of the X chromosome. These genes provide instructions to a type of protein called collagen IV that controls how some body parts are shaped. When you have these mutations, the filters in your kidneys (glomeruli) do not grow properly which means they do not work the way they are supposed to. This causes damage to your kidneys, affecting how well they can remove waste from your blood, and leads to kidney disease.
3. Alport syndrome always causes damage to the kidneys, but it can also impact your eyes and ears. Collagen IV plays a role in how the inner ear is formed as well as the lens and retina in the eye. With the Alport syndrome mutation, these may not form correctly, meaning people with this disease may also have hearing loss or vision problems. 
4. There are three types of Alport syndrome: (1) X-linked (XLAS), (2) recessive Alport syndrome (ARAS) and autosomal dominant (ADAS). The most common form is XLAS — 80-85% of the cases of Alport syndrome are XLAS, according to the Alport Syndrome Foundation.
5. An even rarer form of XLAS is Alport syndrome with diffuse leioyomatosis (ASDL). Leiomyomas are non-cancerous, smooth muscle tumors that can be found in the esophagus, lungs, uterus and other female reproductive organs. According to the Alport Syndrome Foundation, most people with ASDL have a mutation of the COL4A5 gene, so it can be helpful to do genetic testing to find out which mutation you have.
6. Both males and females can have Alport syndrome, but males with the disease often experience a faster decline in their kidney function and have kidney failure more often than females. 
7. The first sign of Alport syndrome is usually blood in the urine. You usually will not notice the blood in your urine, because it can only be seen using a microscope. In time, when the kidney damage gets worse, symptoms may include protein in your urine and high blood pressure.
8. Although people with Alport syndrome are born with the disease, hearing loss does not usually start until childhood or adolescence — and some people may not experience any hearing loss at all! If you do experience hearing loss, it will happen slowly and not all at once. Fortunately, it can typically be correct with a hearing aid. 
9. The disease is named for a British doctor named A. Cecil Alport who first reported a connection between kidney disease and hearing loss in patients in 1927. The syndrome was named for him in 1961, but it is sometimes called congenital hereditary hematuria, hematuria-nephropathy-deafness syndrome and hematuric hereditary nephritis (among other names).
10. There is no cure for Alport syndrome, but there are treatments that can help protect your kidneys. Blood pressure medicines called angiotensin converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) can help keep your kidneys working longer. If your kidneys fail, you will need dialysis or a kidney transplant to survive. Kidney transplants have worked very well in people with Alport syndrome.

You can find out more about Alport syndrome on AKF's website or on these websites:

• Alport Syndrome Foundation
• The National Library of Medicine
• The National Organization for Rare Diseases