Alport syndrome is characterized by a progressive decline in kidney function (kidney insufficiency) that ultimately results in kidney failure. The extent of kidney damage can be determined by analyzing changes in blood count and levels of certain factors in the blood such as serum electrolytes, urea nitrogen, creatinine, albumin, and cholesterol.

Complete blood count (CBC) 

A complete blood count (CBC) measures the number of red blood cells (RBCs), white blood cells (WBCs), and platelets in the blood. It also measures several other factors such as the amount of hemoglobin in the blood and the proportion of RBCs in the blood known as hematocrit.

A normal RBC count ranges from 4.7 to 6.1 million cells/mcL in males and 4.2 to 5.4 million cells/mcL in females. In patients with Alport syndrome, RBC count decreases and so does hematocrit, the normal range being 40.7-50.3 percent in males and 36.1-44.3 percent in females.

Individuals with Alport syndrome also are more likely to have a low hemoglobin level, which normally ranges from 13.8-17.2 g/dL in males and 12.1-15.1 g/dL in females. Hemoglobin is a blood protein that transports oxygen throughout the body.

Patients with Alport syndrome also may have reduced platelets (thrombocytopenia) that are abnormally enlarged (giant platelets). Normal platelet count ranges from 150,000 to 450,000/dL.

Testing for other blood factors

Other markers that could help diagnose Alport syndrome include levels of creatinine, urea nitrogen, and electrolytes such as calcium, phosphate, and potassium.

Some patients also may have low levels of albumin, a protein that transports hormones and vitamins in the blood, and high levels of cholesterol in their blood.

Creatinine blood test and glomerular filtration rate

A creatinine blood test is a common procedure that measures the amount of creatinine in the blood. Creatinine is a waste product that comes from the normal wear and tear of muscles. It is removed from the body by the kidneys.

Normal creatinine levels range from 0.7-1.3 mg/dL in males and 0.6-1.1 mg/dL in females. However, in patients with Alport syndrome, creatinine levels in the blood are elevated due to insufficient removal from the kidney.

Creatinine levels also can be used to calculate glomerular filtration rate (GFR), which is the amount of fluid the kidneys filter. GFR is the best measure of kidney function and can help determine the stage of kidney disease. GFR is calculated from the results of the blood creatinine test, age, body size, and gender.

Blood urea nitrogen (BUN) test

The blood urea nitrogen (BUN) test measures the amount of urea nitrogen that is present in the blood. Urea nitrogen is formed in the liver upon the breakdown of protein and later filtered by the kidneys out of the body.

The BUN test reveals important information about the function of the kidneys and liver.

Normal BUN levels are in the range of 6-20 mg/dL. However, patients with Alport syndrome have higher than normal levels indicating improper functioning of the kidneys or liver.

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