Alport syndrome is a genetic disease primarily affecting the kidneys, ears, and eyes, resulting from an inherited mutation. There is no cure for Alport syndrome, but life-long medical care can help individuals manage the condition. Treatment focuses on relieving symptoms, correcting complications, and slowing the disease's impact on the body.
Alport syndrome is caused by the mutation of a gene instrumental in the production of a type IV collagen protein, which plays a role in maintaining the structure and function of cells and tissues throughout the body. The mutation results in faulty protein production instructions, leading to abnormal type IV collagen.
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