Alport syndrome is an inherited disorder associated with progressive kidney disease, hearing loss, and vision problems. It is caused by a mutation in one of the genes encoding for type 4 collagen, a major structural and functional component of the glomerular basement membrane in the kidneys. This is an essential part of the filtration unit in the kidneys, which removes waste products and excess water from the blood to be excreted in urine.

A diagnosis of Alport syndrome is generally confirmed through genetic testing from a blood or tissue sample to check for a mutation in one of the genes for type 4 collagen. However, a diagnosis may be supported by an imaging test on the kidneys and can help rule out other conditions. Imaging tests can be used as a guide when performing a kidney biopsy, the removal of a small piece of kidney tissue to be examined under a microscope.

Finally, imaging tests are commonly used to assess the progression of kidney disease in Alport syndrome patients or to diagnose end-stage kidney disease.

Types of imaging tests for Alport syndrome

Several types of imaging tests can be used in Alport syndrome, including a renal ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI). These produce an image of the kidneys, which can be used to assess their size and to identify abnormalities or damage.

Renal ultrasound

A renal ultrasound is the most commonly used imaging test for kidney disease in Alport syndrome. The test uses high-frequency sound waves to produce an image of the internal organs.

Ultrasound gel is placed on the skin over the kidneys, and a small device that emits ultrasound waves is moved over the area. This produces images that can be displayed on a monitor.

CT scan

A CT scan uses X-rays to produce cross-section images of the kidneys. These can be stacked to produce a three-dimensional image of the organ.

The test requires the patient to lie down inside a scanner, which contains a device that rotates around the patient, directing X-rays at the body from all angles.

MRI

An MRI scan uses a strong magnetic field to produce images of soft tissues, such as the kidneys.

Similar to a CT scan, the patient will lie down inside a device that contains a strong magnet. The patient must lie very still during the test so the images do not come out blurred.

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