Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Alport syndrome is a genetic disorder[1] characterized by glomerulonephritis, endstage kidney disease, and hearing loss. 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,[2][3] though William Howship Dickinson is also considered by some to have made contributions to the characterization.[4]
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.
Alport syndrome can have different inheritance patterns that are dependent on the genetic mutation.
Gregory et al, 1996, gave the following 10 criteria for the diagnosis of Alport syndrome,[8] 4 of the 10 criteria must be met:
The use of eye examinations for screening has been proposed.[9]
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