Alport syndrome
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, eye abnormalities and are more severe in males with Alport syndrome than in affected females, because the gene that usually causes it, is on the X chromosome. Women have two X chromosomes (XX),  so they usually have a normal copy as well as an abnormal copy of the gene. Men have only one X chromosome (XY), so if they have a problem with the COL4A5 gene, that is their only copy}.
Alport syndrome occurs in approximately 1 in 50,000 newborns. The diagnosis is usually made after kidney biopsy and from the eye and hearing changes.
Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria).
Hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence, is very common.
Anterior lenticonus is an abnormality in the shape of the lens of the eye and affects about 15% to 20% of patients. People with anterior lenticonus may have a slow progressive deterioration of vision requiring patients to change the prescription of their glasses frequently. This condition may also lead to cataract formation. Some people with Alport Syndrome have abnormal pigment of the retina called dot-and-fleck retinopathy, but this does not result in any abnormalities of vision. Recurrent corneal erosion is another eye problem that can occur in people with Alport Syndrome. Treatment of anterior lenticonus, the principal ocular abnormality, by lensectomy and intraocular lens insertion is recommended.
 
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