Alport Syndrome always affects the kidneys. Many people with Alport Syndrome also have hearing problems and abnormalities of the eyes, because the type IV collagen proteins are important to the normal structure and function of the inner ear and the eye.
Kidneys: The central feature of the disease is the presence of blood in the urine (hematuria). Boys with X-linked Alport Syndrome develop hematuria in infancy, and it is always present. The great majority of girls with X-linked Alport Syndrome also have hematuria, but it may come and go The hematuria of Alport Syndrome is usually microscopic, meaning it can only be detected with a microscope or a urine dipstick. Sometimes children with Alport Syndrome have brown, pink or red urine ( gross hematuria) for several days, brought on by a cold or the flu. This gross hematuria will go away on its own and while it may be frightening, it is not harmful.
As boys with Alport Syndrome grow, they begin to show other signs of kidney disease, including protein in the urine and high blood pressure. These symptoms are often present by the time the boys are teen-agers. Girls with Alport Syndrome usually do not have protein in the urine and high blood pressure until much later in life, but occasionally these symptoms appear in teen-aged girls with Alport Syndrome.
Ears:Deafness is another important feature of Alport Syndrome. About 80% of boys with Alport Syndrome will develop deafness at some point in their lives, often by the time they are teen-agers. The deafness affects both ears. Fortunately, hearing aids are usually very effective in these people. Girls with Alport Syndrome may also develop deafness, but less frequently than boys, and usually later in life. Kidney transplantation does not improve the deafness of Alport Syndrome.
Eyes:About 15% of men with Alport Syndrome have an abnormality in the shape of the lens called anterior lenticonus. People with anterior lenticonus may have some problems with their vision, and may develop cataracts.
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