Gourt > Health > Conditions and Diseases > Genitourinary Disorders > Kidney > Alport Syndrome
Alport syndrome is a genetic condition characterized by the progressive loss of kidney function and hearing. Alport syndrome can also affect the eyes. The presence of blood in the urine (hematuria) is almost always found in this condition.
It was first identified in a British family by Dr. Cecil A. Alport in 1927.
Causes
Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, collagen biosynthesis genes. Mutations in any of these genes prevent the proper production or assembly of the type IV collagen network, which is an important structural component of basement membranes in the kidney, inner ear, and eye. Basement membranes are thin, sheet-like structures that separate and support cells in many tissues. When mutations prevent the formation of type IV collagen fibers, the basement membranes of the kidneys are not able to filter waste products from the blood and create urine normally, allowing blood and protein into the urine. The abnormalities of type IV collagen in kidney basement membranes cause gradual scarring of the kidneys, eventually leading to kidney failure in many people with the disease. More on [ Alport syndrome ]
New blog post: Alport Syndrome and Receiving Social Security Disability Benefits http://bit.ly/8q6gZs
disabilityhome (SocialSecurityHome) Mon, 04 Jan 2010 19:21:43 -0000
New blog post: Alport Syndrome and Receiving Social Security Disability Benefits http://bit.ly/8q6gZs
A Healthy Me - A detailed look at alport syndrome and its causes, symptoms, diagnosis, treatment and prevention.
Meta Description: [ aHealthyme.com provides information on health and wellness, along with daily health news, full-text journal and magazine articles, personalized newsletters and e-mail reminders, shopping, and more. ]
Alport Syndrome - Extensive data base for this disease along with message board, chat and resources.
Alport Syndrome - Information about this hereditary renal disease. German site with English translation.
Iafrica Ask the Doctor - A mother asks for and receives general information about alport syndrome.
Meta Description: [ My two sons, aged eight and ten have Alport syndrome. Is there anything I can do to keep their kidney's healthy? Please may I have some general information about the disease? ]
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