Which are key features of Alport Syndrome?

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Alport syndrome is characterized primarily by three key features: glomerular hematuria, sensorineural deafness, and ocular abnormalities.

Glomerular hematuria refers to the presence of blood in the urine due to the damage of the glomeruli, which are the filtering units of the kidneys. This is a common finding in patients with Alport syndrome.

Sensorineural deafness is another hallmark of the condition, resulting from cochlear damage. Patients often report hearing loss which can occur in childhood or adolescence.

Ocular abnormalities can vary, but they often include issues like lenticonus or corneal opacities that are associated with the disorder.

These three features are crucial for the diagnosis and understanding of Alport syndrome as they are direct manifestations of the underlying genetic defect affecting type IV collagen, which is integral to the structure of the kidneys, ears, and eyes. The other options list symptoms that may be associated with other renal diseases but do not encompass the classic triad that defines Alport syndrome itself.

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