What tests are used to diagnose Alport syndrome?
Our doctors may strongly suspect Alport syndrome based on a family history and combined findings of blood in the urine (possibly with some eventual decrease in kidney function on laboratory testing) and impaired hearing. A kidney biopsy can confirm the diagnosis.
A kidney biopsy is a procedure in which we remove a small piece of kidney tissue and examine it under a microscope. Genetic testing may also be helpful in making or confirming a diagnosis of Alport syndrome. We can obtain a sample for a genetic test from a simple saliva swab or by using a blood sample.
What to expect from a kidney biopsy
At Children's Hospital Colorado, we perform a kidney biopsy as an outpatient procedure. We either use sedation to calm your child, or we use full anesthesia, which puts them completely to sleep to eliminate stress and pain as much as possible.
To get the tissue sample, we insert a needle through the back onto the surface of the kidney. Using real-time ultrasound to help us guide the needle, we remove a few small pieces of kidney tissue. We then examine the tissue under a microscope.
After the procedure, which usually lasts about one hour, we will wake your child and monitor them for several hours to ensure any bleeding caused by the biopsy has stopped. If there are no complications, they may leave the hospital. We recommend they avoid strenuous activities for 7 to 10 days. Once the biopsy results are available a few days after the procedure, we discuss them with you and your child and work with you to develop the best treatment plan.
Why choose us to test for Alport syndrome?
From using smaller needles to fit their smaller veins, to using distraction methods like virtual reality headsets, all our tests are designed for children. Our child life team helps explain the procedure in a way that your child understands, with the goal of lowering anxiety and making the hospital experience less stressful.
Coming to Children's Colorado means that our nurses, doctors and anesthesiologists have all been specially trained in pediatric medicine, which means they understand how kids are incredibly different from adults.