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Alport syndrome

Alport syndrome Causes

Alport syndrome is caused by mutations in collagen biosynthesis genes. Mutations in COL4A5, COL4A4 and COL4A3 prevent the normal production of the “type IV collage network”, which is responsible for the healthy function of basement membranes in the eye, inner ear and kidneys. Basement membranes are thin structures that support and separate cells in various tissues. When mutations occur, it prevents the formation of type IV fibers and stops the basement membranes of kidneys to create normal urine and filter water from the blood resulting in hematuria. The abnormal amounts of type IV collagen in the kidney's basement membranes cause kidney scarring, which may eventually lead to kidney failure.

Alport syndrome Definition

Alport syndrome, which first occurred in a British family and identified by Dr. Cecil Alport in 1927, is a genetic disorder characterized by end-stage kidney disease, hearing loss and glomerulonephritis. Hematuria or the presence of blood in urine always occurs in patients with this condition. Some also develop eye problems.

Alport syndrome Diagnosis

Diagnosis involves personal examination of the urinary sediment and a comprehensive family history. Patients with Alport syndrome are usually children with unexplained hematuria, or even an adolescent or middle-aged male with a family history of kidney disease in maternal relatives.

Alport syndrome Treatment

There is no specific treatment to alter or prevent Alport syndrome. Steroids, antibiotics, anticoagulates and even immunosuppressives have no effect to fight this disease. However, some studies show that the control of hypertension and protein restriction may be used.

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