Alport syndrome is a kidney disease caused by lack of a protein known as type IV collagen. The protein is vital to maintaining kidney function and the structure of the eyes and inner ears.

Alport syndrome is inherited. The gene mutation that causes it can be silent in a person’s parents, who may not know they carry the abnormality. In such cases, a diagnosis can be difficult. After reviewing a person’s family history and symptoms, doctors will order a number of tests to try to arrive at a diagnosis..

Urine tests

Hematuria and proteinuria, or the presence of

Blood and protein in urine are common symptoms of Alport syndrome. Doctors may ask for a urine test to check for these conditions.

Hematuria, or blood in the urine, is the most common Alport symptom. But in women especially, it can come and go, so multiple urinalyses may be recommended. Proteinuria, or protein in the urine, usually occurs only in advanced stages of the disease.

Blood tests

Certain factors in blood can be used to assess how much kidney damage a person has. Since kidney problems are a hallmark of Alport syndrome, blood markers of the damage can help diagnose the disease.

One of the blood markers is levels of creatinine, a muscle function waste product. Others are levels of hemoglobin, which transport oxygen in blood, and albumin, which transports hormones and vitamins in blood. Still others are levels of blood urea nitrogen and levels of electrolytes such as calcium, phosphate, and potassium.

Creatinine levels can also be used to calculate glomerualr filtration rate — the amount of fluid the kidneys filter. It is a key indicator of kidney function.

Kidney biopsy

A kidney biopsy involves removing a small amount of kidney tissue.

Doctors may perform one so they can take a closer look at the kidney’s filtering units, the glomeruli. Examining  the tissue sample under a microscope may suggest the presence of Alport syndrome. Medical professionals can also test the biopsy for low levels of type IV collagen.

Eye exams

Alport syndrome affects the eyes as well as the kidneys. Many patients have abnormal eye pigmentation that is easily identified but does not affect vision.

Anterior lenticonus, or abnormally shaped eye lenses, is also common in Alport syndrome. Either of the two conditions can help diagnose the disorder.

Hearing exam

Doctors may ask for a hearing exam to see if a person has the high-tone deafness associated with Alport syndrome. Because the disease can affect the structure of the inner ear, the exam can help a doctor narrow down a diagnosis.

Genetic testing

Once Alport syndrome is suspected, doctors can ask for genetic tests to confirm the diagnosis and determine  the inheritance pattern of the disease. Knowing how the disease was passed down to a patient will give a doctor a better idea of how severe the condition will turn out to be and whether it will appear in other family members.

When a husband or wife has Alport syndrome, or is known to carry it, and the wife becomes pregnant, she may want to have her fetus tested for mutations that can cause the condition.

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