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What characterizes Alport Syndrome?

A genetic condition associated with jaundice

A genetic condition characterized by kidney disease, hearing loss, and eye abnormalities

Alport Syndrome is best characterized as a genetic condition with a triad of symptoms that includes kidney disease, hearing loss, and eye abnormalities. This syndrome is primarily caused by mutations affecting type IV collagen, which is essential for the structural integrity of the glomerular basement membrane in the kidneys, as well as other type IV collagen-rich tissues. The resultant kidney disease often manifests as hematuria and proteinuria, potentially leading to end-stage renal disease. The hearing loss typically affects high-frequency sounds and can develop in late childhood or adolescence. Eye abnormalities, such as lenticonus and retinal flecks, can also occur, contributing to the multifaceted nature of the syndrome.

Other options do not accurately represent Alport Syndrome. The first option refers to a condition involving jaundice, which is unrelated to Alport Syndrome's hallmarks. A nutritional deficiency that leads to kidney issues is not representative of Alport, as this syndrome is genetically inherited rather than caused by dietary factors. Lastly, an autoimmune disorder affecting kidney function does not define Alport Syndrome, as it is not primarily immune-mediated but rather a genetic disorder characterized by defects in collagen synthesis.

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A nutritional deficiency leading to kidney issues

An autoimmune disorder affecting kidney function

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