Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia
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Observational Study
[Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena].
Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner, characterized by lysosomal deposition of globotriaosylceramide due to deficient activity of the enzyme α-galactosidase A. Because the prevalence of this genetic disorder is unknown in the Emilia Romagna region, we conducted a screening study to assess the prevalence of Fabry disease in the city of Modena, Italy. ⋯ Identification of variant of uncertain significance such as c.937G >Tp.(Asp313Tyr) showed the limits of genetic analysis to diagnose an inherit disease. Further studies are need to assess the diagnostic value of Lyso-Gb3 for screening for Fabry disease.