Read about alport syndrome medical facts: what is the definition of alport syndrome, medical treatment & how to treat alport syndrome, information about the causes, diagnosis, and related alport syndrome diseases.

Definition: What is "alport syndrome"?


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

Treatment: How to Treat "alport syndrome"?

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


Alport syndrome is caused by mutations in collagen biosynthesis genes. Mutations in COL4A5, COL4A4 & 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 & kidneys. Basement membranes are thin structures that support & separate cells in various tissues. When mutations occur, it prevents the formation of type IV fibers & stops the basement membranes of kidneys to create normal urine & 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.


Diagnosis involves personal examination of the urinary sediment & 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.

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