Alport syndrome is named after Dr Cecil Alport, the British doctor who first identified the condition in 1927 after noticing patterns of kidney disease and hearing loss affecting several members of the same family.
Today, thanks to the advancement in genetic research, we know that Alport syndrome is a rare inherited condition that affects people in 3 ways:
- kidneys disease
- hearing loss
- eyesight abnormalities
What causes Alport
Alport syndrome is caused by changes in certain Alport genes responsible for producing collagen — an important protein that helps some organs work properly. You can think of collagen as one of the body’s main building materials, helping to keep important structures strong and healthy.
Just for reference, the three main Alport genes are the following:
- COL4A3
- COL4A4
- COL4A5
An extended clinical spectrum
People living with Alport can experience very different symptoms and outcomes. And that’s why the global Alport community started to look at Alport as “an extended clinical spectrum”.
Some people may only have mild kidney problems throughout their lives, in which case we talk about “Alport risk” rather than “Alport syndrome”.
Others may develop hearing loss, eyesight abnormalities or more serious kidney disease over time – here we talk about “Alport syndrome” instead. In some cases, people may eventually need dialysis or a kidney transplant.
If doctors suspect Alport syndrome, they will usually start with blood and urine tests to check kidney function and look for blood or protein in the urine.
If there is a family history of kidney disease, hearing loss or blood in the urine, speak to your doctor about genetic testing and referral to a kidney specialist.
Because Alport syndrome is rare, not all healthcare professionals are familiar with it, so it can help to mention any family history and ask directly about the possibility of Alport syndrome.
How to get a diagnosis
Genetic testing is now the best way to diagnose Alport syndrome. A DNA sample can identify the genetic changes linked to the condition and help doctors understand whether other family members may also be affected.
In some cases, a kidney biopsy may be needed to confirm the diagnosis, especially if symptoms are unclear.
Doctors may also carry out hearing and eye tests, and ask about any family history of kidney disease or hearing loss.
If you get diagnosed with Alport
Being diagnosed with a rare condition can feel overwhelming at first. Many people have never heard of Alport syndrome before their diagnosis. But it is important to remember that you are not alone. We are here to help.