What is Alport syndrome?
Alport syndrome is a rare genetic disorder characterised by progressive loss of kidney function, hearing loss and eye abnormalities. It is the second most common cause of genetic chronic kidney disease (CKD) after polycystic kidney disease (PKD).
Alport syndrome is a genetic disorder. It is caused by changes in the genetic instructions for a protein called type IV collagen. This collagen is found in the kidneys, ears and eyes and is important for their normal function.
Alport syndrome causes
X-Linked inheritance
Around 85% of Alport syndrome is X-linked which means that genetic information on the X chromosome is affected. Biological females have two X chromosomes, while males have one X and one Y chromosome. If a biological male child has an affected Alport gene on the X chromosome, then they will develop the signs of Alport syndrome. For biological females, only one of the two Alport genes on the X chromosomes are affected and they will also develop Alport syndrome, but their condition is typically milder.
Recessive inheritance
The remaining 15% of Alport syndrome occurs when Alport genes on Chromosome 2 are affected. When 2 copies of these Alport genes are affected, this is known as recessive inheritance. In this type of Alport syndrome, biological males and females are equally affected. If only a single copy of an Alport gene on Chromosome 2 is affected, then there will be signs of Alport kidney disease, but this is usually mild.
Individuals with affected Alport genes, for both X-linked and recessive inheritance, can pass these on to their biological children and the chance of inheritance depends on the Alport gene that is affected.
Alport syndrome symptoms
Kidneys
- Haematuria (blood in the urine) can be present from birth. Haematuria is often invisible and only detected by dipstick testing. Occasionally, minor infections can cause visible haematuria.
- Proteinuria (protein in the urine) may also develop.
- Blood pressure may increase as the kidney function declines
Ears
People with Alport syndrome usually have normal hearing at birth and during early childhood, so their speech develops normally. Hearing difficulties in biological males, and females with Alport syndrome, are usually first noticed from around 5 years old and a hearing test, called an audiogram, is likely to reveal mild to moderate high-tone deafness. Over the next 10 years, hearing loss is likely to slowly worsen until, and hearing aids will be prescribed. In adult life, hearing loss tends to plateau, and some useful hearing nearly always persists.
Eyes
Alport syndrome does not usually affect the eyes in childhood but in adult life:
- The lens may slowly become cone-shaped, causing myopia (short-sightedness). If this becomes a problem, the lens can be replaced in an operation similar to ordinary cataract surgery.
- White flecks can also be detected by using an ophthalmoscope to look at the retina (the nerve layer at the back of the eyes). Although this does not affect vision, it can help doctors to diagnose the condition.
- The front of the eyes can become dry and painful, requiring treatment with artificial tear drops.
Alport syndrome diagnosis
If Alport syndrome is suspected, standard tests such as blood and urine tests, will be carried out to check your kidney function and look for traces of blood and protein in your urine.
Genetic testing
Alport syndrome is a genetic condition and therefore it can be diagnosed from a sample of your DNA to look for the genetic variants that are known to cause the condition. This is the best way to diagnose Alport syndrome. If a genetic variant is found, a kidney specialist can give you advice about the chances of family members being affected and how relatives can be screened for the condition, if this is requested. So far, around 3000 different Alport gene variants have been identified, and some families have their own unique variant.
Biopsies
A kidney biopsy (a medical procedure to take small samples of the kidney to look at under the microscope) may also be required to make an accurate diagnosis of Alport syndrome and it is required if signs and symptoms are not typical.
Hearing and eyes
Doctors will also check for high-tone deafness, look for possible signs in your eyes and ask if you have a known family history of chronic kidney disease or blood in the urine.
Alport syndrome treatment
If the condition is detected at an early stage, it may be possible to slow down your rate of kidney disease by using drugs called ACE Inhibitors to reduce protein loss from the kidneys.
Standard blood and urine tests are also usually carried out to gauge kidney function, and you may also be offered treatments if you develop high blood pressure, anaemia or bone weakness.
You may also be encouraged to help preserve your kidney health by:
- Eating a healthy diet
- Maintaining a healthy weight
- Taking regular exercise
- Avoiding the use of non-steroidal anti-inflammatory drugs
Even though women with X-linked Alport syndrome are less severely affected than men, they should also be checked regularly and take the same precautions to preserve kidney health.
Alport syndrome disease progression
People with Alport syndrome can progress to kidney failure and will then need dialysis or a kidney transplant. Following a kidney transplant, Alport kidney problems do not recur in the transplanted kidney. However, sometimes the transplanted kidney can be damaged by antibodies attacking the normal collagen present in the glomeruli.
Currently, there is no cure for Alport syndrome. The available treatments aim to slow the progression of kidney disease and to alleviate symptoms.
Useful resources about Alport syndrome
If you have been diagnosed with Alport syndrome and have any questions or concerns about your illness do not hesitate to speak to your kidney specialist or your nurse specialist at the kidney unit.
- Alport UK is a patient-led organisation that provides support and information for people with Alport syndrome.
- To contact the Alport Patient Support Group email: info@alportuk.org
- Alport syndrome – Rare Renal
- Alport syndrome – EDREN
Reviewed May 2025
"A UK hub for Alport Research will transform our ability to increase awareness, improve understanding of the condition and to accelerate new treatment options."
Professor Rachel Lennon
Pioneering new programme to drive Alport syndrome research
In partnership with the Stoneygate Trust, we're launching The Stoneygate and Kidney Research UK Alport Research Hub, led by Professor Rachel Lennon, to accelerate research, transform early diagnosis and to develop specific treatments for Alport syndrome.
The programme is designed to make sure the best research happens with the best people in the most efficient way and this model of funding could be the way we tackle many different kidney diseases and conditions in the future.
Introducing the Alport Research Hub
Developed in partnership with the Stoneygate Trust, the Alport Research Hub is accelerating research towards new approaches to early diagnosis and the development of treatments specifically for Alport syndrome.
Better genetic testing and medications called ACE (Angiotensin Converting Enzyme) inhibitors, which slow down the loss of kidney function, have improved the diagnosis and treatment of Alport syndrome in the last decade, but more progress is needed. By enabling the work of a research lab in Manchester, led by Professor Rachel Lennon, and a virtual hub using information from RaDaR (National Registry of Rare Kidney Diseases), led by Professors Danny Gale and Neil Turner, the Alport Research Hub brings together the expertise and resources to drive progress for patients living with Alport syndrome.
The University of Nottingham’s new project grant forms part of the Alport Research Hub programme of work.
Our Alport syndrome research
Our research is changing the lives for people living with kidney disease but more needs to be done.
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