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Alport Syndrome (also called heriditary nephritis) is a hereditary disorder, where function of kidney is poor, blood in the urine occurs, and eye and deafness defects are sometimes present. Alport Syndrome results from a defective gene on the X-chromosome. Females with abnormal gene on 1 of their 2 chromosomes commonly do not experience any symptoms, even though their kidneys can be somewhat less efficient than normal. Males with the abnormal gene (when man do not have a 2nd X chromosome to compensate for the defect), commonly develop failure of kidney between ages 20 to 30. Many individuals with Alport Syndrome do not experience any symptoms other than blood found in urine, but the urine can also contain different amounts of protein, while casts (small clumps of material) and white blood cells of different kinds found under microscope. Alport Syndrome may also damage organs other than the kidneys. Hearing disorders, and inability to hear sounds at higher frequencies, are common in people with Alport syndrome. Cataracts may also happen, although, less often than loss of hearing. Defects of the lens, retina, or cornea in some cases may lead to the blindness. Other symptoms of Alport Syndrome may include Thrombocytopenia (low blood platelet count), and polyneuropathy (abnormalities that damage few nerves). The individuals developing kidney failure should to undergo dialysis or have kidney transplantation. For individuals, who have desires to have children, genetic counseling is available.
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