Understanding The Alport Syndrome Diagnosis
Getting properly diagnosed is important so that you can get the best care. This includes following recommended treatment guidelines for taking medicines that can slow the progression of this kidney disease.
To accurately diagnose if you have Alport syndrome and which genetic type, a nephrologist (kidney specialist) and/or other doctors will likely use a combination of several different methods.
The most common ways of testing for Alport syndrome
combine several of these methods:
Asking questions about your extended family’s health history to discover if anyone else has experienced blood and/or protein in their urine, hearing loss, or kidney problems.
Drawing blood samples from your arm and sending to a laboratory for testing. This is typically done at hospital, laboratory or clinic.
Taking pictures of your kidneys in motion with an ultrasound machine. This is typically done at a hospital because special imaging equipment is needed.
Collecting a sample of urine in a cup and sending it to a laboratory for testing. This can be done in your doctor’s office or at hospital, laboratory or clinic.
Administering a hearing test in which you listen for sounds and respond. Typically done at an audiologist’s office (hearing specialist) because special sound and computer equipment is needed.
Undergoing a biopsy, a procedure in which a nephrologist takes a sample of tissue from your kidney to send to a laboratory for testing. Anesthesia is administered so you sleep during the biopsy to avoid moving and discomfort. Typically, this procedure is done in a hospital with no overnight stay necessary.
New Research and Changed Thinking
According to leading experts on Alport syndrome, “It is just as important to diagnose Alport syndrome in girls as in boys.” Early and accurate diagnosis is crucial for early intervention.
- Over 95% of females with Alport syndrome have blood in the urine, so they have the disease.
- Females are not just carriers of the disease.
- Females can develop all the same symptoms and outcomes as males.