The Fabry Disease :: essays research papers fc

The Fabry DiseaseClassificationThe Fabry Disease is a hereditary disorder, caused by the overlook ofalphagalactosidase A. It is an x-linked recessive inheritance. Therefore it isthe females that carry it. The ones who be mostly affected by this distemper atomic number 18the males. Female carriers, though, may develop angiokeratomas and may swallowproblems with burning pains. Very few of the carriers may also have kidney orheart problems. This disease occurs in 1 of 40,000 people.Descriptions A person with the Fabry disease develops angiokeratomas, which beclusters of raised, dot-like lesions. Appearing during childhood or puberty inthe venereal and thigh areas, these angiokeratomas increase in size and number.Other symptoms of this disease are burning pains in hand or feet, nausea,vomiting, abdominal pains, dizziness, headaches and generalize weakness.Swelling of the legs, caused by the gathering of lymph, a yellowish body fluid, at a lower place the skin may also occur. Ski n will show telangiectasis, blow up intra-epidermal (intra - within, epidermal - outer layer) spaces filled with blood.Places (vessel wall) where there is no telangiectasis are filled with depositsof glycolipids. These deposits are also found in the heart, muscles, renaltubules and glomeruli, commutation nervous system, spleen, liver, bone marrow, lymphnodes and cornea. Retarded growth, delayed puberty and ocular abnormalities arealso common symptoms. These symptoms are mostly fond in males because theydisplay full-blown syndrome, while females displays a partial form.DiagnosisThey firsts take a urine sample, which is the first place where theywould find anything. Then they would take a blood, bone marrow andophthalmologic examination.