Fabry disease (MIM301500), also known as "Anderson-Fabry disease" (AFD), was first reported by two dermatologists William Anderson (Germany) and Johannes Fabry (England) in 1898, hence the name. The disease is a rare lysosomal storage disease (LSD) inherited by X-associated sex. Its pathogenesis is related to the mutation of α-galactosidase A (α-gal A, a lysosomal enzyme) gene in Xq22. At present, more than 580 mutations have been reported from various ethnic groups[1,2,3,4,5,6,7,8,9]。 The mutation of α-Gal A gene leads to partial or complete loss of the activity of the enzyme, resulting in its metabolic substrate trihexosoylsphingolipid (GL3) and related glycosphingolipid accumulation in various organs and tissues of human body, such as heart, kidney, pancreas, skin, nerves, lungs, etc., and finally causing a series of organ lesions. Since birth, metabolites such as GL3 are deposited in various tissues and organs. Clinical symptoms often appear in childhood to adolescence, and gradually aggravate with the progression of the disease. Many patients, especially male patients, often die of severe renal failure or cardiovascular and cerebrovascular complications in young and middle age. The average survival time of male patients is 20 years shorter than that of healthy people, while the average survival time of female patients is about 10 years shorter[1,2]Its diagnosis is mainly confirmed by pathological examination, enzymatic assay and α-gal A gene detection on the basis of clinical manifestations.
