FABRY DISEASE

Summarized by Plex Health
Last Updated: 02 May 2022
medpix case - fabry disease "medpix case - fabry disease", by Original Source: Steven J Goldstein; Author: James G. Smirniotopoulos, M.D. (Uniformed Services University); Approved By: James G. Smirniotopoulos, M.D. (Uniformed Services University);. Note low signal intensity focus in posterior aspect of Pulvinar nuclei (arrows)....

Fabry disease is a type of lysosomal storage space disease. End phase kidney disease might be dealt with by dialysis or kidney transplantation. Fabry disease is acquired in an X-linked pattern, which means the hereditary changes that cause the disease occur in a gene on the X chromosome. When a female with a GLA pathogenic version has children, each child has a 50% chance to acquire the GLA pathogenic version since each child will inherit among her X chromosomes at random. People with Fabry disease ought to be seen each year, or more regularly, by a doctor knowledgeable about handling Fabry disease to check the function of their kidneys and heart. When you have Fabry disease, a particular type of fatty substance accumulates in the cells of your body. Your doctor may call Fabry disease a "storage space disorder. " You get Fabry disease from your parents. The issue is that your body can't make an enzyme called alpha-galactosidase A, which you need to damage down fatty substances like oils, waxes, and fats. You either were born without that enzyme or it does not work right when you have Fabry disease. Fabry disease can lead to more severe problems, especially in men. Characteristic features of Fabry disease consist of episodes of pain, especially in the feet and hands; clusters of small, dark red areas on the skin called angiokeratomas; a decreased ability to sweat; cloudiness or streaks in the front part of the eye; troubles with the gastrointestinal system; supplanting the ears; and listening to loss. Fabry disease also involves possibly serious complications such as progressive kidney damages, cardiovascular disease, and stroke. Some affected people have milder forms of the disorder that show up later on in life and affect only the heart or kidneys.

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