Alport syndrome is a congenital disorder causing inflammation of the glomeruli in the kidneys, hearing loss, hematuria, and vision disturbances. It is caused by mutations in collagen biosynthesis genes and is usually X-linked. There is no known cure, but symptoms can be treated with medication and dialysis/kidney transplantation. Gene therapy is a potential treatment.
Alport syndrome, also called hereditary nephritis, is a congenital disorder characterized by glomerulonephritis, or inflammation of the glomeruli, the small blood vessels in the kidneys. It also causes hearing loss, hematuria or blood in the urine, advanced kidney disease, and sometimes vision disturbances. It is named after the English physician Cecil A. Alport, who first identified the disease in 1927.
Alport syndrome is caused by mutations in one or more collagen biosynthesis genes COL4A3, COL4A4 and COL4A5, which are important in the structural composition of the kidney, ear and eye. Alport syndrome causes the basement membranes of these organs, which provide physical support to their cells. It results in the inability of the kidneys to filter wastes from the blood efficiently, causing blood and protein to leak into the urine, leading to gradual scarring of the kidneys and eventually kidney failure.
Alport syndrome is usually an X-linked disorder, causing the disease to develop in males with one parent with the defective gene, but only causing the disease in females who inherit two copies of the defective gene. Thus, females are more often carriers of the disease who can pass it on to their offspring, but have no symptoms. There is also a recessive form of Alport syndrome with the defective gene located on a different chromosome, chromosome 2. In this form, both parents must carry the defective gene in order for their child, boy or girl, to inherit the disease.
Alport syndrome is diagnosed through a family history of kidney inflammation, with end-stage renal disease in at least two family members, by genetic testing, and by observing symptoms including gradual hearing loss, blood in the urine, structural abnormalities in the basement membrane of the kidneys and benign tumors of the esophagus or female genitalia. There is no known cure for Alport syndrome, so it is treated by addressing the symptoms. Angiotensin-converting enzyme (ACE) inhibitors, pharmaceuticals usually used to treat high blood pressure and heart failure, can be used to treat the protein in the urine. If the disease progresses to kidney failure, dialysis and kidney transplantation are possible treatments. Gene therapy, in which healthy genes are inserted into a patient’s tissues, is a potential method of treating Alport syndrome, but it hasn’t been perfected yet.
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