How do I know if I have Alport Syndrome?
What signs or symptoms may make you suspect you may have Alport Syndrome. People who have experience in Alport Syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment
Alport Syndrome is a genetic disorder that affects the kidneys and can also impact the ears and eyes. It is caused by mutations in certain genes that are responsible for producing proteins needed for the normal functioning of these organs. If you suspect you may have Alport Syndrome, it is important to consult with a healthcare professional for a proper diagnosis.
Symptoms:
Alport Syndrome can present with a variety of symptoms, which can vary in severity from person to person. The most common signs include:
- Blood in the urine (hematuria): This is often one of the earliest signs and can be microscopic or visible to the naked eye.
- Progressive loss of kidney function: This can lead to chronic kidney disease and eventually kidney failure.
- High blood pressure: Hypertension may develop due to kidney damage.
- Hearing loss: Sensorineural hearing loss, typically affecting high frequencies, is a common feature of Alport Syndrome.
- Eye abnormalities: Some individuals may experience vision problems, such as lens dislocation or cataracts.
Diagnosis:
If you suspect Alport Syndrome, it is crucial to consult with a healthcare professional who may refer you to a nephrologist (kidney specialist) or a geneticist. The diagnosis typically involves:
- Medical history and physical examination: The doctor will inquire about your symptoms, family history, and perform a thorough examination.
- Urine tests: Analysis of urine samples can detect the presence of blood and protein, which are common indicators of kidney damage.
- Kidney biopsy: A small sample of kidney tissue may be taken to examine it under a microscope for characteristic changes seen in Alport Syndrome.
- Genetic testing: This involves analyzing your DNA to identify mutations in the genes associated with Alport Syndrome.
- Hearing and vision tests: These evaluations help assess any potential auditory or visual impairments.
Treatment and Management:
While there is currently no cure for Alport Syndrome, early detection and management can help slow down the progression of kidney disease and alleviate symptoms. Treatment options may include:
- Medications: Certain medications can help control high blood pressure and reduce proteinuria (excessive protein in the urine).
- Dietary changes: Limiting salt and protein intake may be recommended to reduce strain on the kidneys.
- Hearing aids: If hearing loss is significant, hearing aids can improve communication and quality of life.
- Kidney transplant or dialysis: In severe cases of kidney failure, a transplant or dialysis may be necessary.
If you suspect you may have Alport Syndrome or have concerns about your kidney health, it is essential to consult with a healthcare professional for an accurate diagnosis and appropriate management.
Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. The condition worsens to end-stage renal disease (ESRD) early on in the affected person’s life, usually between adolescence and 40 years.
People with Alport syndrome also frequently develop hearing loss caused by problems with the inner ear in late childhood or early adolescence.
Alport syndrome is diagnosed using a combination of clinical, family history, and biopsy criteria but genetic testing is also used to confirm this diagnosis.
Posted Feb 6, 2018 by Reata Pharmaceuticals - CARDINAL Study for Alport Syndrome
