Alport syndrome is a rare hereditary illness (a genetic disorder) caused by increasing renal dysfunction, hearing issues, and visual problems. There are three genetic kinds of this syndrome, the most frequent of which is the X-linked type (XLAS). Kidney failure caused due to this disorder is more severe in men than women. Read on to learn more about this rare genetic disorder and the measures that must be undertaken to manage it.
Causes of Alport syndrome
This syndrome is a type of genetic kidney inflammation or nephritis. A mutation in collagen causes the onset. The causes of Alport syndrome vary, depending on the genetic type.
- X-linked Alport syndrome (XLAS)
This genetic type is the most common and affects men more severely than women. This type is caused by the COL4A5 gene’s disease-causing variants commonly found inside the X chromosome. - Autosomal recessive Alport syndrome (ARAS)
This syndrome affects men and women equally. The inherited abnormal genes of both parents cause this kind of syndrome. - Autosomal dominant Alport syndrome (ADAS)
This is the most uncommon type since it is inherited from a parent who actively suffers from this syndrome.
Symptoms of Alport syndrome
The most common symptom of this syndrome is blood in the urine. This disorder starts at a young age. Other symptoms of Alport syndrome may arise as the condition advances.
- Kidneys
Due to kidney inflammation, the color of the urine becomes abnormal. During illness or after exercising, there are possibilities of blood appearing in the urine as well. - Ears
This disorder causes hearing loss in both ears over time. Hearing loss is typical in men with XLAS and less common in women. Boys and girls with ARAS have hearing loss during childhood. It happens later in life for people with ADAS. Hearing loss generally precedes renal failure. - Eyes
This syndrome can also cause ocular difficulties in people with XLAS and ARAS. For example, the anterior lenticonus can cause a progressive decrease in eyesight and cataracts. Corneal erosion damages the outer layer of the eyeball, resulting in pain, irritation, redness, or blurred vision. Other symptoms like dot-and-fleck retinopathy and macular hole can aid in diagnosing this syndrome.
How is Alport syndrome diagnosed?
The microscopic blood vessels in the kidneys’ glomeruli have been damaged and cannot filter wastes and excess fluid from the body. Many people with Alport syndrome also have hearing issues and vision. Here are some of the common tests:
- Urine analysis
A urinalysis can reveal the presence of blood and protein in the urine, which are characteristic signs of Alport syndrome. - Blood tests
Blood tests can assist in determining the levels of specific chemicals, such as creatinine and blood urea nitrogen (BUN), which can suggest renal function and overall health. - Genetic testing
Alport syndrome is caused by mutations in certain genes. Genetic testing can identify these mutations and confirm the diagnosis.
Management of Alport syndrome
This disorder has no cure that completely treats its root cause. When the management of Alport syndrome is concerned, the goal is to alleviate the symptoms of renal disease while also slowing its progression. This includes:
- Using certain prescriptions
- Reducing the intake of sodium (salt)
If you are approaching renal failure, kidney transplantation is usually regarded as one of the most successful remedies for Alport syndrome.
In conclusion, Alport Syndrome is a genetic disorder that affects the kidneys, ears, and eyes. While the condition can vary in severity, early diagnosis and management are certain to preserve kidney function and minimize complications. Regular monitoring, blood pressure control, and potential treatments can help slow the progression of the disease.
