DEFINITIONS
Fabry disease is a rare hereditary disease occurs, which causes accumulation of glycolipids (the result of fat metabolism).
CAUSE
Defective gene carried by the X chromosome so that the disease occurs only in men, who have only 1 X chromosome
SYMPTOMS
Accumulation of glycolipids causes angiokeratoma, which is a benign skin growth on lower trunk.
Such as the cornea becomes cloudy, causing vision problems.
Such as burning pain may occur in the arms and legs, and the patient may experience episodes of fever.
Deaths mainly due to kidney failure, heart disease or stroke due to high blood pressure.
Diagnosis
Fabry disease can be diagnosed in a fetus by examining examples vilus chorion or amniocentesis (amniotic fluid examination).
TREATMENT
To reduce pain and fever are given analgesic (pain reliever).
This disease can not be cured, but researchers are investigating a treatment in which an enzyme deficiency that occurs replaced through transfusions.
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