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Home  List of Disease  Alport syndrome

Disease Name:Alport syndrome
Alport syndrome
Alternate Names:-
Virus Name:Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, collagen biosynthesis genes. Mutations in any of these genes stop the proper production or assembly of the type IV collagen network, which is an vital structural component of basement membranes in the kidney, inner ear, and eye. Basement membranes are thin, sheet-like structures that separate and hold up cells in many tissues. When mutations stop the formation of type IV collagen fibers, the basement membranes of the kidneys a
Treatment:Gene therapy as a probable treatment choice has been discussed.
Description:Alport syndrome is a hereditary disorder characterize by glomerulonephritis, endstage kidney disease, and hearing loss. Alport syndrome be able to affect the eyes. The presence of blood in the urine is almost always found in this condition. It was first identified in a British family by Dr. Cecil A. Alport in 1927, though William Howship Dickinson is also measured by some to have made contributions to the characterization

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