Alport syndrome

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine, which indicates abnormal functioning of the kidneys.

Many people with Alport syndrome also develop high levels of protein in their urine . The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease.

People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of during late childhood or early adolescence. Affected individuals may also have and abnormal coloration of the light-sensitive tissue at the back of the Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.

These genes each provide instructions for making one component of a protein called collagen. This protein plays an important role in specifically in structures called glomeruli. Glomeruli are clusters of specialized blood vessels that rom blood and create urine.

Mutations in these genes result in abnormalities of the collagen in glomeruli, which prevents the kidneys from properly filtering the blood and allows blood and protein to pass into the urine. Gradual scarring of the kidneys occurs, eventually leading to kidney failure in many people with Alport syndrome.

Collagen is also an important component of, particularly the organ of Corti that transforms sound waves into nerve impulses for the brain. Alterations in type IV collagen often result in abnormal inner ear function, which can lead to hearing loss., this protein is important for maintaining the shape of the lens and the normal color of the retina. Mutations that disrupt collagen can result in misshapen lenses and an abnormally colored retina.

Alport syndrome can have different inheritance patterns. About 80 per cent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes.

Alport syndrome is a rare genetic disorder characterized by progressive kidney disease and abnormalities of the inner ear and the eye. There are three genetic types. X-linked Alport syndrome is the most common; in these families affected males typically have more severe disease than affected females.

Alport syndrome is an inherited disorder that is characterized by progressive kidney damage, hearing problems, and eye abnormalities. There is currently no cure for Alport syndrome and treatments are limited, but research is ongoing and various therapies are used to help patients manage its symptoms.

Blood and protein in urine are common symptoms of Alport syndrome. Doctors may ask for a urine test to check for these conditions. Haematuria, or blood in the urine, is the most common Alport symptom. But in women especially, it can come and go, so multiple urinalyses may be recommended.

Alport syndrome is suspected based on a family history or clinical signs of the condition. When Alport syndrome is suspected, genetic testing can be used to confirm the diagnosis and determine the pattern of inheritance. This can provide information about the chance that other family members are affected.

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Journal of Clinical Nephrology and Research