Alport syndrome is a hereditary disease that affects the filtering function of the kidneys. It is caused by mutations in genes that code for collagen type IV, a protein that is crucial for the structure of the glomeruli – the filtering units of the kidneys. The disease is usually X-linked, which means that it is more common and more severe in men, but it can also be inherited autosomal dominantly or recessively.
Alport syndrome is a rare, hereditary kidney disease. In Sweden, it is estimated that approximately 1 in 50,000 people have the disease. This means that a few new cases are diagnosed each year. Since the disease is often hereditary, it is usually discovered in families where one or more members already have the diagnosis. Early detection is important in order to be able to follow the course of the disease and initiate treatment in time.
Symptoms of Alport syndrome
Symptoms vary depending on gender, inheritance pattern, and disease progression, but common signs include:
- Blood in the urine (hematuria), often from early childhood
- Gradually deteriorating kidney function
- Hearing loss (sensorineural type), which most often develops in adolescence
- Eye changes, such as lens changes and maculopathy
Diagnosis of Alport syndrome
The diagnosis can often be suspected early, especially if the disease runs in the family. The following tests are common:
- Urine test that shows blood (microscopic hematuria) and sometimes egg white (proteinuria)
- Blood test to check kidney function
- Hearing test that shows sensorineural hearing loss
- Eye examination that can show typical changes in the lens or retina of the eye
- Genetic testing can confirm the diagnosis and is particularly valuable in family studies
Treatment of Alport syndrome
There is currently no curative treatment, but the goal is to slow the progression of the disease and preserve kidney function for as long as possible. Treatment includes:
- Blood pressure-lowering drugs (ACE inhibitors or ARBs) that protect the kidneys
- Regular monitoring of blood pressure, kidney function, hearing and vision
- Dietary advice and lifestyle support
- Possible hearing aid and contact with an audiologist
- In advanced kidney failure, dialysis or kidney transplantation may be necessary
Most people with Alport syndrome develop chronic kidney failure in adulthood. However, early diagnosis and treatment can slow the progression and improve quality of life. Women with the disease often have a milder disease but should still be followed up regularly. In addition to kidney damage, hearing loss and eye changes are common complications. Therefore, coordinated care is important where both kidney medicine, hearing care and ophthalmologists are involved in the follow-up.