Alport Syndrome - Causes, Diagnosis, and Treatment
TABLE OF CONTENTS
Alport syndrome is a genetic illness that affects the functioning of the kidneys, eyes, and ears. It affects the collagen type IV in the body, which prevents these organs from functioning naturally. Also, it damages the glomeruli in the kidneys, which prevents the filtering of wastes from the blood. If not treated in time, the disease may cause damage to the kidneys at the subsequent stages. In medical terms, this stage is called ESRD (End Stage Renal Disease).
Those who are affected with Alport syndrome experience issues with hearing either in the final stage of their childhood or the beginning of their teenage. The disease also negatively impacts their power of visibility by altering the size of their eye lens or by causing myopia or cataract. Individuals may also develop flecks in their eyes. However, they do not cause complete blindness.
Compared to females, the illness affects more males, due to which they (men) develop severe complications. But it is frequent only in one out of 5,000-10,000 individuals.
Causes of Alport Syndrome
The primary cause of Alport syndrome is the mutation of the following genes:
COL4A3
COL4A4
COL4A5
The mutation of these genes prevents the formation of type IV collagen, which leads to the formation of abnormal collagen in glomeruli. In the subsequent stages, it causes kidney disease and other complications.
Symptoms of Alport Syndrome
Alport syndrome can be identified through some of its symptoms. The majority of Alport syndrome symptoms also constitute complications. These include kidney disease, problems in hearing or total hearing loss, and visibility issues due to a problem in the eyes.
In addition, people suffering from the disease also display the following symptoms:
Blood in urine which is also called haematuria in medical terms
Urine in protein also known as proteinuria
Hypertension
Inflammation in the feet, eye region, and ankles
Alport Syndrome Diagnosis and Treatment
Diagnosis
Urine Tests
Doctors check the urine for blood (even if not visible) and protein.
These can be early signs of kidney damage.
Hearing Tests
A special test (audiometry) checks for hearing loss, especially in children and teenagers.
Hearing loss in Alport Syndrome is usually sensorineural (nerve-related).
Eye Tests
An eye doctor checks for changes in the lens (like anterior lenticonus) or retina problems.
These are common in older children or adults with Alport.
Kidney Biopsy
A small sample of kidney tissue is looked at under a microscope.
In Alport, the kidney filter (basement membrane) looks thin or split.
Genetic Testing
A blood test can check for mutations in COL4A3, COL4A4, or COL4A5 genes.
This confirms the diagnosis and helps understand inheritance.
Family History
The doctor will ask about any relatives with kidney disease, hearing loss, or early dialysis or kidney failure.
Treatment
ACE Inhibitors or ARBs (Medicines)
These drugs lower protein in urine and protect the kidneys.
Starting early helps delay kidney failure.
Blood Pressure Control
Keeping blood pressure normal helps reduce stress on the kidneys.
Often done with the same medicines as above.
Hearing Management
If hearing loss happens, hearing aids can help.
Regular checkups with an ear doctor (ENT) are important.
Eye Care
Regular visits to the eye doctor to check for problems.
Sometimes, surgery is needed for lens changes.
Kidney Transplant
If the kidneys stop working (end-stage kidney disease), a kidney transplant is often successful.
Dialysis may be needed before transplant.
Genetic Counseling
Helps families understand how Alport Syndrome is passed on.
Useful for planning future pregnancies or testing other family members.
