What primary symptom is associated with Alport syndrome?

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Alport syndrome is a genetic condition characterized by specific mutations affecting the collagen type IV, which plays a critical role in the structure and function of the basement membranes in the kidneys, ears, and eyes. One of the hallmark symptoms of Alport syndrome is hearing loss, which often presents in childhood or early adolescence. This hearing loss occurs due to the involvement of the cochlear structures in the inner ear, where the same collagen type IV deficiency impacts hearing mechanisms.

In addition to hearing loss, individuals with Alport syndrome may experience progressive kidney dysfunction, resulting in hematuria (blood in urine) and proteinuria (excess protein in urine), which can lead to kidney disease later in life. Some patients may also show visual problems. However, the primary and most distinctive symptom that sets Alport syndrome apart is bilateral sensorineural hearing loss, making this symptom crucial for diagnosis and management of the condition.

Other symptoms listed, such as severe hypertension, facial swelling, and recurrent infections, are not typically associated with Alport syndrome directly, indicating that the correct association of this condition is indeed with hearing loss.

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