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Alport Syndrome - Case Report

Essay specific features

 

Issue:

Science

 

Written by:

Marie K

 

Date added:

November 30, 2011

 

Level:

University

 

Grade:

A

 

No of pages / words:

6 / 1521

 

Was viewed:

540 times

 

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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...
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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...
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