You may have never heard of Alport syndrome, but it’s a rare disorder that affects people across the world. The most important thing for people with this syndrome is to get diagnosed as early as possible. This will let them receive the treatment they need to overcome this condition. If someone has Alport syndrome or is curious to learn more about it, keep reading this article to learn more about it:

What is Alport syndrome?
Alport syndrome is a genetic disorder that affects the kidneys and ears. It is characterized by the gradual loss of kidney function and hearing loss. In a few cases, it can also lead to eye problems.

Causes of Alport syndrome
Alport syndrome is a genetic disorder that affects the kidneys and hearing. It is caused by changes in the COL4A3, COL4A4, and COL4A5 genes. These genes make collagen, a protein found in all body tissues. Mutations in these genes can cause collagen production problems, leading to Alport syndrome.

Symptoms of Alport syndrome
Symptoms of Alport syndrome include:
High blood pressure (hypertension)
Most people with Alport syndrome have hypertension, which is caused by increased fluid retention in the body. This increased fluid retention forces the heart to work harder and raises the risk of stroke and other cardiovascular problems.

Proteinuria
It is a condition where too much protein leaks from the kidneys into the urine stream. This leakage increases nitrogen levels in the bloodstream, which can cause swelling in various parts of the body.

Hematuria
Hematuria may include cloudy blood in the urine, increased thirst, fever, fatigue, and muscle pain. Edema (swelling) is another common symptom of Alport syndrome.

Edema
It may happen anywhere on the body but is commonly seen around the ankles, feet, hands, and face. It can also cause breathing difficulty and an inability to eat properly due to swelling in the throat and stomach.

Diagnosis of Alport syndrome
Blood test
A blood test can help determine if one has Alport syndrome and identify abnormalities in kidney function.

Urine test
If one has renal impairment, the doctor may order a urine test to check for kidney damage or disease signs.

Kidney biopsy
If blood tests or urinalysis results show that one has renal impairment, the doctor may recommend a kidney biopsy to see if there is evidence of Alport syndrome in the kidneys. This method involves removing a small piece of tissue from one or both kidneys for examination under a microscope.

Vision test
Some people with Alport syndrome also experience vision problems due to impaired kidney function. The doctor may recommend an eye exam to check for other signs of renal impairment.

Genetic test
Genetic testing is also essential because it can help identify people at risk for developing this condition.

Hearing test
Hearing tests are often recommended as part of treatment because they can help detect early signs of hearing loss caused by alanine buildup in the ears.

Treatment of Alport syndrome
If one is experiencing symptoms of Alport syndrome, it is crucial to visit a doctor as soon as possible. The doctor will diagnose the condition and prescribe the appropriate treatment that can slow the progression of kidney disease.

Some common treatments include limiting salt intake. Eating too much salt can lead to high blood pressure and other health problems. Follow a healthy meal plan that includes plenty of fruits and vegetables instead.

The doctor will prescribe products to help reduce water retention and swelling in the body tissues caused by Alport syndrome. It can help relieve chest pain due to fluid accumulation in the lungs. Use ACE inhibitors to prevent heart failure from developing.