Clinical observations of Fabry-Anderson disease

Abstract

Fabry-Anderson disease is an orphan (very rare) hereditary X-linked disease related to lysosomal storage diseases, in which there is a deficiency of the enzyme α-galactosidase-A, which leads to the accumulation of sphingolipids in the tissues of vital organs. The disease is diagnosed by determining the level of α-galactosidase-А in the blood, as well as by identifying the mutation of the GLA gene responsible for the production of α-galactosidase-А. The disease is manifested by the defeat of vital organs: the brain, peripheral nervous system, the kidney, which directly affects both the early disability and mortality of these patients. The prognosis for the life of these patients improved with the advent of enzyme replacement therapy. The article presents 5 clinical observations of patients with Fabry-Anderson's disease. All observed patients are male at the time of diagnosis of Fabry-Anderson's disease from 19 to 42 years old (average age 30 years). Kidney and heart damage were found in all patients, two of them receive renal replacement therapy with hemodialysis. All patients receive enzyme replacement therapy. The detailed description of anamnesis, features of clinical manifestations of the disease, process of diagnostics and treatment of the observed patients is given.