Rare Pediatrics News
5 Facts you should know about
Alport syndrome
1
Alport syndrome is a rare genetic disorder characterized by progressive kidney dysfunction, hearing loss, and occasionally eye abnormalities, constituting a complex genetic anomaly
2
Diagnosis involves meticulous clinical assessments and genetic testing to identify mutations in specific genes, with neurological symptoms serving as pivotal indicators for identification
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Treatment primarily focuses on symptom management and complications, including strategies like blood pressure control, specialized care, and, in some cases, kidney transplant
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The condition originates from mutations in genes linked to collagen production, often emerging during childhood, profoundly impacting kidney functionality, and at times, causing hearing and vision impairments
5
Prognosis varies; while advancements improve life expectancy, progressive kidney deterioration persists, leading to potential complications such as hearing or vision issues
Rare Pediatrics News
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