Open AccessANDERSON-FABRY DISEASE: MANIFESTATION AND PROGNOSIS
Author(s) -
N.O. Pichkur
Publication year - 2017
Publication title -
ukraïnsʹkij žurnal nefrologìï ta dìalìzu
Language(s) - English
Resource type - Journals
eISSN - 2616-7352
pISSN - 2304-0238
DOI - 10.31450/ukrjnd.3(39).2013.07
Subject(s) - fabry disease , enzyme replacement therapy , medicine , proband , proteinuria , disease , pediatrics , fabry's disease , genetic counseling , genetic testing , kidney , mutation , genetics , biology , gene
The aim of the study was to describe diagnostic and treatment experience of Fabry disease in Ukraine, rare inherited multisystem metaboliс disorder with chronic kidney insufficiency as one of signs. The diagnosis was found in nine years old boy with acroparestesia and multiply angiokeratomas after enzymodiagnostic test (determination of lysosomal enzyme alpha-galactosidase A activity level in peripheral blood leucocytes). The parents gave consent to examine of the other child in family, 19 years old boy with myeloradiculonevritis and inferior paraparesis, and glomerulonephritis presented by proteinuria. Fabry disease was confirmed in proband by special enzymodiagnostic test. Clinical-genealogical analysis was exposed by the "phenomenon of grandfather": grandfather exitus from End Stage Renal Disease, probably due renal manifestation of Fabry disease. Enzyme replacement therapy was stabilized patient state, decreased the proteinuria level and saved the renal function. Early and classic signs of Fabry disease which allows to suspect a genetic anomaly were presented in article. Information about Fabry disease physician followed by in-time diagnosis and onset of specific therapy those provide favorable disease course, social adaptation and rehabilitation of patient, effective medical-genetic consultation in gen-compromised families.