MEDizzy - Alport Syndrome AS, is a genetically heterogeneous disease

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Nephrology Part I

Alport Syndrome AS, is a genetically heterogeneous disease caused by mutations in the genes coding for type IV collagen, it is characterized by

ExplanationAll patients with AS have asymptomatic microscopic hematuria, which may be intermittent in girls and younger boys. Progressive proteinuria, often exceeding 1 g/24 hr., is common by the 2nd decade of life and can be severe enough to cause nephrotic syndrome. Bilateral sensor neural hearing loss, which is never congenital, Ocular abnormalities, which occur in 30-40% of patients with X-linked AS, include anterior lentic onus (extrusion of the central portion of the lens into the anterior chamber), macular flecks, and corneal erosions. Leiomyomatosis of the oesophagus, tracheobronchial tree, and female genitals in association with platelet abnormalities has been reported, but is rare.