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Alport syndrome

Alport syndrome is a rare, inherited disease that primarily affects the kidneys but can also cause hearing loss and eye changes. The disease is caused by genetic mutations that damage the structure of the kidney's filtration system and can lead to gradual deterioration of kidney function.

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Quick version

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.

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Medical comment included

With us, you will always receive a doctor’s opinion from a licensed physician when you order a medical check-up that includes a medical opinion. The doctor’s opinion includes an overall assessment of your results from laboratory analysis. The opinion is individual and may vary depending on the specific tests your medical check-up includes.

What can I expect in the medical report?

The medical opinion will summarize the results of your test results to give you an assessment of your health including any abnormalities outside the reference ranges. In case of abnormalities or need, your doctor may also contact you for a free conversation to explain and talk about your results. Remember that a health check always includes specific test results based on your health and your personal circumstances. Values outside the reference range should therefore always be discussed with a doctor before any decisions regarding possible treatment are made.

What does the doctor look at during a health check?

When assessing a blood test or health check, your doctor will look at several different parameters to evaluate your health and identify any abnormalities. Below are some common aspects your doctor may examine:

Blood counts: Your doctor will check red, white and platelet counts to identify any signs of anaemia, infection or bleeding.

Nutrients and biochemical markers: Includes, for example, analysis and monitoring of blood sugar (glucose) levels, electrolyte levels (e.g. sodium, potassium), liver function tests (e.g. liver enzymes), kidney function tests (e.g. creatinine, urea) and lipid profile (e.g. cholesterol, triglycerides). The results of the tests give your doctor a better idea of your organ function, blood sugar level, cholesterol conditions and other important health aspects.

Inflammatory markers: Your doctor may measure health markers such as C-reactive protein (CRP) or red blood cell decrease rate (SR) to evaluate inflammatory conditions or confirm an active infection.

Hormone levels: Your doctor may monitor your hormone levels to assess hormonal imbalances or diseases, such as thyroid hormones (TSH, T3, T4), sex hormones or other specific hormones such as testosterone levels.

Specific tests: Depending on your goal of your health check or medical history, your doctor may look into specific tests to investigate conditions or diseases, such as diabetes, vitamin deficiency or autoimmune diseases.

In conclusion, the doctor weighs all test results based on the health check to assess your overall health, detect any abnormalities and identify possible underlying medical conditions.

What happens if I have abnormal test results?

If your blood count is abnormal, this will be addressed in your personal medical opinion. Depending on the nature and extent of the abnormality, your doctor may also contact you directly through the test result service for further guidance. Various measures and advice will be provided based on the specific abnormalities observed along with your medical history.

  • Checking your kidney function.
  • Test for suspected kidney failure.
  • Health check for your kidney status.

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