Alport syndrome develops when the body cannot produce enough type IV collagen, a protein vital to maintaining kidney’s filtering capabilities.

How Alport syndrome affects kidneys

Typically, the first sign of Alport syndrome is hematuria, or blood in urine. It indicates that a kidney filtering mechanism called the glomerular basement membrane is damaged. The membrane separates waste in the bloodstream from urine.

The body will try to heal damage to the membrane by patching injured areas with scar tissue, further reducing the kidneys’ functioning.

What is a kidney biopsy?

If Alport syndrome is suspected, a doctor will perform a kidney biopsy to look for signs of the disease in the kidneys, especially abnormalities in their filtering membranes. In this minimally invasive procedure, a doctor collects a small sample of kidney tissue with a needle.

The doctor uses ultrasound to identify the kidney collection site. With high-risk or obese patients, a doctor may use a computed tomography (CT) scan instead of ultrasound to get a better view of the kidneys.

A doctor usually injects a local anesthetic around the biopsy site before collecting the tissue sample. Kidney biopsies are done on an outpatient basis, or patients may be asked to spend a single day in a hospital.

Patients with a history of blood-clotting problems may require an open or laparoscopic kidney biopsy. Both involve small cuts that have to be sewn up. Both also require general anesthesia and a longer recovery time. An advantage is that they offer doctors a direct view of the kidneys.

How is a biopsy sample analyzed?

Doctors use an electron microscope to identify any abnormalities in the glomerular basement membrane.

Immunostaining can help a doctor detect proteins associated with kidney problems and levels of the amino acid chains that make up type IV collagen. Medical professionals may also stain part of the sample and look at it under a microscope. This will give them an overview of the structure and let them see any damage to the glomerular basement membrane.

Results of a biopsy are typically available to patients within a week.

Complications associated with kidney biopsy

Although kidney biopsy complications are rare, several side effects are associated with them.

Patients may experience a dull pain at the biopsy site for several days. Also, blood may appear in the urine, causing it to appear slightly pink on the first day after the procedure.

If hematuria continues, or if blood clots are visible in the urine, patients should consult their physician. Also, patients should seek medical attention if the biopsy site begins to bleed.

Abnormal connections between arteries and veins, known as arteriovenous fistulas, have occasionally appeared after kidney biopsies. These abnormal blood vessel formations prevent blood from reaching tissues in the body and can lead to serious complications.

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Alport Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.