Alport syndrome is a genetic condition that primarily affects kidney function, hearing, and eyesight. The genetic mutation associated with the disease interrupts the body’s ability to produce a protein called type IV collagen. Type IV collagen plays a major role in kidney function and also provides structural support to the inner ear and eyes.

The severity and onset of the symptoms of the disease vary between patients and differences can usually be attributed to the specific gene that is mutated.

Effects of the disease on the kidneys

As the filtering units of the kidneys are made up of type IV collagen, the functionality of the kidneys is reduced in Alport syndrome patients. Thus, the primary symptom that Alport syndrome patients experience is the presence of blood in the urine, known as hematuria. Although the blood is usually not visible to the naked eye, it can cause discoloration of the urine when the patient is sick with a passing illness, such as a cold. As the kidneys progressively fail, protein concentration in the urine begins to increase, known as proteinuria.

The kidneys play an important role in regular bodily functions, including filtering and removing waste from the body, maintaining electrolyte levels in the blood, and manufacturing hormones that regulate blood pressure, red blood cell count, and maintain bones. Kidney failure, therefore, causes a number of related symptoms in different areas of the body such as fatigue, swelling, poor digestion, high blood pressure, and bone weakness, which have all been associated with Alport syndrome.

Typically, kidney transplant and dialysis are considered in more severe cases, and symptoms associated with renal function tend to improve after a kidney transplant.

Effects of inner ear

Alport syndrome-associated hearing loss is typically identified prior to the onset of kidney failure, though this symptom does not affect all Alport syndrome patients. The inner ear structure, made up of type IV collagen, can worsen in its ability to transmit sound. When hearing loss does occur, it typically presents itself by late childhood and may results in deafness by age 40. Hearing aids can be used to help patients with progressive hearing loss.

Effects on eyes

The lens, retina, and cornea are all reliant on the effective production of type IV collagen. Abnormally-shaped eye lenses, referred to as anterior lenticonus, affects approximately 15 percent of Alport syndrome patients. This condition can lead to early-onset cataracts.

Recurrent corneal erosion, characterized by recurrent eye itchiness, is also more common in Alport syndrome patients. This condition can increase the risk of accidental damage to the cornea, so patients may need to take extra precautions, like wearing goggles when riding a bike, to prevent trauma to the cornea.

A less common, but still prevalent issue, affecting approximately five percent of Alport syndrome patients, is the development of macular holes that can lead to hazy, distorted, or completely lost vision.

Alport syndrome can also cause an abnormal pigmentation of the retina known as dot-and-fleck retinopathy or macular flecks.This has no effect on the patient’s vision but can be utilized to diagnose Alport syndrome.

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