Fabry disease is a X-dependent disease lysosomal recessive of storage. Fabry disease is caused by the lack of or the necessary defective enzyme to metabolize of the lipids, large-like the substances which include oils, waxes, and acids fatty. Fabry disease occurs in the whole world among all the ethnic groups. Fabry disease can carry out to one shortened duration due to the decreased kidney and the disease functions. Fabry of heart occurs in all the ethnic groups. Fabry disease is estimated it that a person in 40.000 the disease. This disorder also occurs in the females, although less commonly.
Some women who carry the genetic change can have symptoms of the disease. Some of the most common pathological symptoms include lesions of skin, and an extreme pain of the ends. The extreme feelings becomes worse with the exercise and heat survive and of small, increased defects reddish-crimsons on the skin. Some boys will also have demonstrations of eye, particularly opacity of the cornea. The complications of kidney are a common and serious effect of the disease; the renal insufficiency and the renal failure can worsen during all the life. Cardiac complications occur when Gb3 accumulates in various cells of heart.
The effects connected by heart worsen with the age and can carry out to the greatest risk of cardiac disorder. Fabry’s disease can also have the ocular participation, such as the presence of the corneal verticillata in the basic layers of the epithelium, aneurisms conjunctival, and the cataracts of spokelike. Replacement of enzymes can be effective by slowing down the progression of the disease. The gastro-intestinal hyperactivity can be treated with the metoclopramide. Some individuals can need the transplantation of dialysis or kidney. A mode of renal is recommended for patients presenting the proteinuria and the renal failure.
The therapy of replacement of enzymes can be carried out in the patient at the house by the patients themselves.