Alport Syndrome
Alport Syndrome is a genetic condition that primarily affects the kidneys, ears, and eyes. It is caused by mutations in genes responsible for producing collagen, a protein that helps maintain the structure of various tissues. This syndrome often leads to progressive kidney disease, hearing loss, and eye abnormalities, such as cataracts or lens dislocation.
The symptoms of Alport Syndrome typically appear in childhood or adolescence, with kidney issues often being the first sign. Diagnosis is usually confirmed through genetic testing and a kidney biopsy. Early detection and management are crucial to slowing the progression of kidney damage and addressing associated complications.