Causes And Diagnosis Of Alport Syndrome

How It Is Diagnosed

A medical professional, such as a kidney specialist, may suspect a patient has one of the varieties of Alport syndrome based on symptoms and an individual’s medical history. Doctors may recommend a kidney biopsy to find signs of abnormal cells in the glomeruli remains the key to how it is diagnosed. This biopsy also allows health care providers to test for type IV collagen protein mutations. None of these proteins would be found in a person who has Alport syndrome.

Doctors may also measure the amount of protein and blood in a person’s urine. Ophthalmologic exams show physicians whether a patient has eye conditions such as anterior lenticonus. Furthermore, genetic testing can be done to confirm the Alport syndrome diagnosis, and treatment for this rare disease can commence.