Urine Test for Diagnosing Alport Syndrome

Telltale signs of the kidney disease Alport syndrome include blood, protein, and other substances in urine. So testing urine for these substances can help doctors diagnose the disease.

What is a urine test

A urine test involves examining a patient’s urine in a laboratory to look for substances it is carrying.

Collection a urine sample

There are two ways of collecting urine: 24-hour collection and clean catch.

As its name implies, 24-hour urine collection involves collecting urine for 24 hours. Medical technicians use the sample to measure the amount of creatinine, other proteins, and chemicals the body has released into urine in a day.

The clean catch method involves collecting a single sample of urine at one time.

How urine is tested

A urine sample is first analyzed in a laboratory for its color — pale, dark yellow, or another color — and its appearance — clear or cloudy.

Next a medical technician examines urine and urine sediment under a microscope. The technician will be trying to detect blood and other cells, urine crystals, mucus, and microorganisms such as bacteria.

A chemical analysis of urine is done with a dipstick coated with chemicals that change color when they come in contact with various substances.

How a urine test spots Alport syndrome


Hematuria, or blood in urine, is the most common and earliest symptom of Alport syndrome. Every urine test will detect blood in men with the condition. Hematuria shows up in some tests of a woman’s urine, but not in others, so a doctor may need several urine tests to help diagnose a woman’s Alport.

Sometimes blood in urine is not visible to the eye but small amounts can be detected with a microscope. Since upper respiratory infections or exercise can cause hematuria, a urine test cannot provide a definitive diagnosis for Alport syndrome.

To help zero in on a diagnosis, a doctor may ask that a patient’s family be tested for blood in urine as well.


Proteinuria, or protein in urine, usually occurs only in advanced stages of Alport syndrome. It results from damage to the tiny blood vessels in the glomeruli, or filtering units of the kidneys.

As the disease progresses, people with X-linked Alport syndrome or the autosomal recessive form of the disease develop proteinuria. High levels of protein in urine can lead to patients retaining fluids and causing their ankles, wrists or face to swell.


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