Which are the symptoms of Alport Syndrome?

Symptoms of Alport Syndrome

Alport Syndrome is a genetic disorder that primarily affects the kidneys, ears, and eyes. It is caused by mutations in genes that are responsible for producing certain proteins in the body. These proteins are essential for the normal functioning of the kidneys' filtration system, the inner ear, and the eyes.

Kidney Symptoms:

One of the hallmark symptoms of Alport Syndrome is kidney disease, which typically presents in childhood or adolescence. The severity of kidney involvement can vary among individuals, but it generally progresses over time. Common kidney-related symptoms include:

• Blood in the urine (hematuria): This is often the first sign of Alport Syndrome and may be visible to the naked eye or detected through urine tests.


• Proteinuria: Excessive protein in the urine, which can lead to foamy or frothy urine.


• High blood pressure: Alport Syndrome can cause hypertension, which may be detected during routine check-ups.


• Progressive loss of kidney function: Over time, the kidneys may become less efficient in filtering waste products from the blood, leading to chronic kidney disease (CKD) and potentially end-stage renal disease (ESRD) requiring dialysis or kidney transplantation.

Ear Symptoms:

Alport Syndrome can also affect the structure and function of the inner ear, leading to various auditory problems. These ear-related symptoms may include:

• Hearing loss: Sensorineural hearing loss is a common feature of Alport Syndrome, typically affecting high frequencies initially and progressing to involve lower frequencies over time.


• Tinnitus: Some individuals may experience ringing or buzzing sounds in the ears.

Eye Symptoms:

The eyes can also be affected in Alport Syndrome, although eye-related symptoms are generally less common and less severe compared to kidney and ear symptoms. Eye-related manifestations may include:

• Anterior lenticonus: This condition causes the front part of the lens to bulge forward, resulting in visual disturbances.


• Retinopathy: In rare cases, Alport Syndrome can lead to abnormalities in the retina, potentially causing vision problems.

It is important to note that the severity and progression of symptoms can vary widely among individuals with Alport Syndrome. Some individuals may experience mild symptoms and have a slower disease progression, while others may have more severe symptoms and a faster decline in kidney function.

Early diagnosis and regular monitoring are crucial in managing Alport Syndrome. If you or your child experience any of the aforementioned symptoms, it is important to consult a healthcare professional for proper evaluation and diagnosis.