The Fabry Disease

A ripe essay about the classification,description,diagnosis, prognosis, and treatment of the fabry diesease. Very good essay,neatly done, well organized

The Fabry Disease

Classification

        The Fabry Disease is a hereditary dis rescript, caused by the drop of alphagalactosidase A. It is an x-linked recessive inheritance. Therefore it is the females that carry it. The ones who ar mostly affect by this disease are the males. Female carriers, though, may jump angiokeratomas and may have problems with burning pains. Very few of the carriers may alike have kidney or heart problems. This disease occurs in 1 of 40,000 people.

Descriptions

         A person with the Fabry disease develops angiokeratomas, which are clusters of raised, dot-like lesions. appear during childhood or puberty in the genital and thigh areas, these angiokeratomas increase in size and number. Other symptoms of this disease are burning pains in hand or feet, nausea, vomiting, group AB pains, dizziness, headaches and generalized weakness. Swelling of the legs, caused by the gathering of lymph, a jaundiced body fluid, under the skin may in like manner occur. fur will show telangiectasis, inflated intra-epidermal (intra - within, epidermal - outer layer) spaces fill up with blood. Places (vessel wall) where there is no telangiectasis are filled with deposits of glycolipids. These deposits are also found in the heart, muscles, renal tubules and glomeruli, central nervous system, spleen, liver, bead marrow, lymph nodes and cornea.



Retarded growth, delayed puberty and ocular abnormalities are also common symptoms. These symptoms are mostly fond in males because they unwrap full-blown syndrome, while females displays a partial form.

Diagnosis

        They firsts lift out a urine sample, which is the first place where they would find anything. Then they would take a blood, bone marrow and ophthalmologic examination. Prenatal diagnosis by way of Amniocentesis or Chronic Villus Sampling is also available.

Prognosis

        People affected...

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