Episode Description:
Alport Syndrome arises from mutations in genes encoding type IV collagen, critical for the structural integrity of the basement membranes in the kidney, inner ear, and eyes. These genetic mutations can be inherited in an X-linked dominant, autosomal recessive, or autosomal dominant manner. The most common form is X-linked, leading to irregular and thinning glomerular basement membranes in the kidneys and subsequent kidney disease.
Early signs of Alport Syndrome often appear in childhood or adolescence, starting with hematuria (blood in the urine) and progressing to proteinuria, high blood pressure, and renal failure. Sensorineural hearing loss typically manifests during late childhood or adolescence, and less commonly, eye abnormalities such as anterior lenticonus and retinopathy can occur.
Diagnosis involves clinical evaluation, family history, genetic testing, and sometimes a kidney biopsy. Early diagnosis is crucial for managing symptoms and delaying disease progression. Management strategies include medications like ACE inhibitors or ARBs to control proteinuria and hypertension, hearing aids or cochlear implants for hearing loss, and corrective lenses or surgery for ocular issues.
The prognosis for Alport Syndrome varies based on the mode of inheritance and symptom onset. X-linked cases often have a poorer prognosis due to earlier kidney failure. Advances in genetic research and potential targeted therapies, including gene therapy, offer hope for more effective future treatments.
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Renes Care Radio is a podcast designed for nephrology professionals, offering in-depth scientific explorations of key topics. It equips kidney care providers with the essential knowledge needed for advanced patient care.
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