Alport’s syndrome

A genetic disease of the kidneys which sometimes causes a person to lose his or her hearing and sight.


Alport syndrome is an inherited (usually X-linked) disorder. It involves damage to the kidneys, blood in the urine, and loss of hearing in some families and in some cases, loss of vision. In cases in which there is no family history of kidney disease, Alport syndrome is caused by a mutation in a collagen gene.


Congenital glomerulonephritis associated with deafness and a decrease in large thrombocytes. Occasionally there are eye abnormalities such as cataracts. Although there is no specific treatment for this condition, dialysis or kidney transplantation is used to treat affected patients with kidney failure.


 


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