What is Alport syndrome disease?
What is Alport syndrome disease?
Alport syndrome is a disease that damages the tiny blood vessels in your kidneys. It can lead to kidney disease and kidney failure. It can also cause hearing loss and problems within the eyes. Alport syndrome causes damage to your kidneys by attacking the glomeruli.
What is Albert crocus 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 (hematuria), which indicates abnormal functioning of the kidneys.
Is there a cure for Alport syndrome?
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.
Who can get Alport syndrome?
There are three genetic types: X-linked Alport syndrome (XLAS) — This is the most common type. The disease is more severe in males than in females. Autosomal recessive Alport syndrome (ARAS) — Males and females have equally severe disease.
Can females get Alport syndrome?
Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%–30% develop renal failure by 60 years and often hearing loss by middle age. Half of their sons and daughters are also affected.
What type of mutation is Alport syndrome?
X-linked Alport syndrome is caused by mutations in the COL4A5 gene, which resides on the X chromosome. X-linked disorders cause more severe symptoms in affected males than in affected females because males have only one X chromosome.
Is Alport syndrome life threatening?
Most men with Alport syndrome reach end-stage kidney disease and kidney failure by their 40s or 50s, which can reduce lifespan if not managed with dialysis or a kidney transplant. Most women with Alport syndrome have a normal lifespan.
Can Alport syndrome skip a generation?
X-linked Alport syndrome is underdiagnosed in women. The generation skipping observed in X-linked families reflects the presence of undiagnosed women. This occurs because female relatives of affected men are not systematically screened in adult nephrology practice.
Is Alport syndrome more common in males or females?
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 (XLAS) is the most common; in these families affected males typically have more severe disease than affected females.
How bad is Alport syndrome?
Alport syndrome is a genetic condition characterized by kidney disease , hearing loss , and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease.
At what age does Alport syndrome develop?
Hearing loss typically develops during late childhood or early adolescence, and most affected individuals become deaf by age 40. Alport syndrome is also characterized by specific eye changes….Symptoms.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| Corneal erosion | Damage to outer layer of the cornea of the eye | 0200020 |
What is the life expectancy of someone with Alport syndrome?
Prognosis of Alport syndrome Most men with Alport syndrome reach end-stage kidney disease and kidney failure by their 40s or 50s, which can reduce lifespan if not managed with dialysis or a kidney transplant. Most women with Alport syndrome have a normal lifespan.
What is Alport syndrome?
Alport syndrome is a genetic disorder. It is identified by kidney disease, hearing loss and eye abnormalities. It was described by A.Cecil Alport in 1927.
What are the possible complications of lenticonus anterior?
Cataract, flecked retinopathy, posterior polymorphous dystrophy and corneal arcus juvenilis may be encountered in association with lenticonus anterior that occurs as a part of the Alport syndrome. There exist two distinct types of lenticonus based on the face of the lens affected. Alport syndrome can cause both lenticonus anterior and posterior.
How does progressive hearing loss occur in Alport syndrome?
Progressive hearing loss (sensorineural deafness) occurs frequently in people with Alport syndrome. Sensorineural deafness results from impaired transmission of sound input from the inner ears (cochleae) to the brain via the auditory nerves. The hearing loss is bilateral, meaning it affects both ears.
How does Alport syndrome lead to end-stage renal disease?
The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD). People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence.
