Alport syndrome

Below you will find more information about Alport syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Alport syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Alport syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Alport syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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.

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.

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.

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