Sunday, December 11, 2011

Fabry Disease




The disease i will be informing my fellow classmates with is Fabry Disease.



It is inherited through the X chromosome and causes a fatty buildup in the autonomic nervous and cardiovascular system as well as the kidneys and eyes. This disease is more commonly found in males rather than females. The symptoms are noticeable during the childhood of kids and progress to a more worsened case as they age. They are not able to sweat have very little body hair, heart enlargement, fevers, renal complications leading to renal failure, and gastrointestinal problems. Those who have this disease have a burning pain from over heating caused by water or exercise. There are also angiokeratomas, which are purplish-reddish small, raised, and benign spots that appear all over the body, more occurringly by the torso along with blurry material that is found in the cornea. It is difficult to diagnose this disease because it can effect a range of clinical symptoms. Enzyme replacement decreases the depot of glycosphingolipids, improving of organ function, and ease pain. Another option is pain prescribed pills and prevention of blood clots or surgery or insertion of a pacemaker that can be inserted if the heart problems are fatal. 1 in almost 40000 to 60000 is inherited with the disease and the life expectancy is around age 50.

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