| Abstract [eng] |
Fabry’s disease is a congenital disorder of glycosphingolipid metabolism with an X-linked recessive inheritance, presenting with typical symptoms of pain crises, acroparesthesias, cutaneous and mucosal angiokeratomas, hypohidrosis, heart and kidney lesions, and other symptoms, which are described below. From 2001, this disease is one of inborn errors of metabolism in which enzyme replacement therapy is applied very effectively. Two atypical forms of the disease were discovered, and the first surveys were done revealing that the incidence of Fabry’s disease can be much more higher than it was considered before. Not only pediatricians can encounter with these patients in their practice, but also family doctors, nephrologists, cardiologists, neurologists, and physicians of other specialties. A clinical case of Fabry’s disease is described, and actual issues of diagnostics and treatment of Fabry’s disease are discussed. In spite of very typical symptoms, delayed diagnosis was made: after the first investigation of a-galactosidase A activity in dry blood sample, diagnosis of Fabry’s disease was rejected; only after lysosomal enzyme activity assay in heparinized blood leukocytes, this diagnosis was confirmed. |
