What is alport syndrome?

Alport syndrome, also called hereditary nephritis, is a congenital disorder characterized by glomerulonephritis or glomeruli inflammation, small blood vessels in the kidneys. It also causes hearing loss, hematuria or blood in the urine, advanced kidney disease and sometimes visual impairment. It is named after the English doctor Cecil A. Alport, who first identified the disease in 1927.

Alport syndrome is caused by mutations in one or more collage biosynthesses of Col4A3, COL4A4 and COL4A5, which are important in the structural composition of the kidneys, ear and eye. Alport syndrome causes basal membranes of these organs that provide physical support to their cells. The result is the inability to effectively filter blood waste, causing blood and proteins to enter the urine, leading to a gradual scarring of the kidneys and finally kidney failure.

alport syndrome is usually a disorder linked to x, causing men to be detected with a defective gene to develop a disorder but only causes diseaseIn women who inherit two copies of a defective gene. Therefore, women are more often bearers of diseases that can pass it on to their children but have no symptoms. There is also a recessive form of alport syndrome with a defective gene placed on another chromosome, Chromosome 2. In this form, both parents must carry a defective gene in order for their child, man or woman to inherit disease.

Alport syndrome is diagnosed with a family history of kidney inflammation, with kidney disease at least two family members, genetic analysis and observation of symptoms, including gradual hearing loss, urine blood, structural abnormalities For alport syndrome, so he is treated with symptoms. Inhibitors of angiotensin-converting enzyme (ACE), drugs that are usually used to treat high blood pressure and heart failureuse to address protein in the urine. If the disease progresses for kidney failure, dialysis and renal transplantation are possible. Gene therapy in which healthy genes are inserted into the patient's tissues is a potential method of treatment of alport syndrome, but has not yet been improved.