Alport Syndrome: Public Education

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Exon Publications

Abstract


Alport Syndrome is a genetic disorder that affects the kidneys, ears, and eyes, leading to progressive kidney disease, hearing loss, and vision problems. This comprehensive article explains the condition in detail, covering its causes, symptoms, and genetic basis. The disease is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes, which affect collagen proteins essential for the structural integrity of the kidneys and other tissues. The book also explores diagnostic methods, treatment options such as angiotensin-converting enzyme inhibitors (ACE inhibitors) and angiotensin receptor blockers (ARBs), and lifestyle adaptations to manage the disease. Written for patients, families, and caregivers, the guide offers practical advice and reliable information to support those living with Alport Syndrome.

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