Things You Should Know About Alport Syndrome!

Alport syndrome is a genetic or hereditary disorder, which destroys the blood vessels in glomeruli of the kidneys. Eventually, it can lead to serious kidney diseases and even kidney failure. The Alport syndrome is also characterized by loss of hearing and development of eye abnormalities.

What is the cause of Alport Syndrome?

This ailment may be passed on to you if someone you are related to by blood has this condition. Genetic mutations bring about changes in the protein called collagen, which is instrumental to the functioning of the kidneys. Moreover, collagen also keeps the eyes and ears healthy. That is why any change to collagen can inflict damage to the kidneys, ears and eyes.

The genetic types of Alport Syndrome

The genetic types associated with Alport syndrome are-

• X-linked Alport Syndrome
• Autosomal recession Alport Syndrome
• Autosomal dominant Alport Syndrome

What are the Symptoms of Alport Syndrome?

The kidneys, because of the damage done to the blood vessels, may be unable to get rid of excess fluids and flush out the toxins. In such a case, you might notice the following signs of kidney disease –

• Swelling of the legs, feet and knees
• Pain in the chest
• Nausea that persists all-day
• Extreme fatigue
• Shortness of breath
• Weakened bones
• High blood pressure

You will also experience a loss of hearing and eye-related problems such as retinopathy or maculopathy. These symptoms usually appear in childhood. Complete deafness can set in by the time a person turns 40.

Another early symptom of Alport syndrome is the presence of blood and protein in a person’s urine.

Diagnosis of Alport Syndrome

When you notice any of these symptoms, visit a doctor. A detailed family medical history, urine test, blood test and a kidney biopsy to detect abnormalities in the glomeruli of the kidneys will help the doctor diagnose Alport Syndrome and put you on medication. You will also be recommended an ophthalmological test, which will reveal if you show the signs of anterior lenticonus – a condition linked to Alport syndrome. There will also be a mandatory hearing test.

What is the treatment of Alport Syndrome?

There is no specific cure for Alport syndrome. The aim is to curb the symptoms and prevent the illness from progressing. Your blood pressure will be constantly monitored and be given medicines to keep it in check. You will also have to cut down your intake of salt and restrict how much fluids you are consuming. Your doctor will also prescribe diuretics.

 Alport syndrome is an uncommon genetic disorder. But if you stick to your medication and diet, it can be kept in check.