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Alport syndrome
Alport syndrome or hereditary nephritis is a genetic disorder〔(Diseases of the Kidney: Alport Syndrome )〕 characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, causing eye abnormalities including cataracts, lenticonus, kerataconus, as well as retinal flecks in the macula and mid-periphery. Visibly bloody urine and protein in the urine are common features of this condition.
The disorder was first identified in a British family by University of Edinburgh Medical School graduate Cecil A. Alport in 1927,
==Causes==
Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, all genes involved in collagen biosynthesis. 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, which allows 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. The thickening of the basement membrane (because of the scar tissue) gives a "basket-weave" appearance from splitting of the glomerular basement membrane, specifically the ''lamina densa'' layer. Single molecule computational studies of type IV collagen molecules have shown changes in the structure and nano-mechanical behavior of mutated molecules. Notably, these lead to a bent molecular shape with kinks in the protein at the site of the mutations.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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