PATHOLOGY CASE REPORT

XL dominant Alport Syndrome: a rare condition and a rare mode of genetic transmission

INTRODUCTION

Alport syndrome (AS) is a rare abnormality of glomerular basement membrane caused by mutations in several different genes, all of which encode particular forms of type IV collagen, a major component of basement membrane. 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. 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.......

Join Now to view the rest of this term paper!
Members: Login to view this research paper.

Title: Alport Syndrome - Case Report
Approximate Word Count: 1499
Approximate Pages: 6 (250 words per double-spaced page)

With the Term Papers Lab Membership Pass, you get instant access to every term paper on this site, including the term paper on Alport Syndrome - Case Report, for as long as you remain a member! That's over 100,000 online term papers and written research papers at your fingertips!

You could be reading our college term papers on Alport Syndrome - Case Report in less than two minutes!

Other term papers sites charge almost $100 for a single term paper. At Term Papers Lab, you can get instant access to over 100,000 termpapers and sample research papers for as little as $29.95!