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Alport Syndrome - Case Report
Essay specific features
Written by:
Marie K
Date added:
November 30, 2011
Level:
University
Grade:
A
No of pages / words:
6 / 1521
Was viewed:
545 times
Rating of current essay:
Essay content:
It is characterized by chronic renal failure leading to end-stage renal disease (ESRD) and is often associated with sensorineural deafness (Kanski 2003). The inheritance is typically XL dominant (about 80-85%) although autosomal recessive and autosomal dominant cases have been reported (Ermisch, Gross et al...
displayed 300 characters
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2000). The typical ocular signs are anterior lenticonus and scattered, pale, yellow, punctate flecks in the peri-macular region, sparing the fovea with normal visual acuity (Kanski 2003).
The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the alpha5-chain of type IV-collagen (Hertz, Juncker et al...
displayed 300 characters
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