"Fabry disease" 的定义和意义

What is "Fabry disease"?

Fabry disease is a rare genetic disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. This buildup can lead to a range of symptoms, including pain and burning sensations in the hands and feet, clusters of small, dark red spots on the skin, and problems with the kidneys, heart, and nervous system. Fabry disease is caused by changes in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A. Without enough of this enzyme, the body cannot break down globotriaosylceramide, leading to its buildup. Treatment for Fabry disease may include enzyme replacement therapy to replace the missing enzyme, medications to manage symptoms such as pain and high blood pressure, and regular monitoring of organ function.