Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

Background: Anderson–Fabry disease (AFD) is an X-linked that results from reduced activity of the enzyme galactosidase alpha (GLA). When GLA gene sequence altered by mutations alter normal DNA sequence, variants alpha-galactosidase A are produced, which may or not function. These responsible for Fabry disease, and to date, over 800 different have been described in patients with disease. In this case, we report case a woman who sole family member type mutation. Case presentation: We 52-year-old end-stage chronic kidney dialysis treatment. The patient’s was 6.6 nmol/ml/h whole blood, lyso-GB3 levels were 11.45 nmol/L (normal range < 2.3 nmol/L). Alpha-galactosidase analysis revealed pathogenic variant c.947dupT exon 6, leading p. I317NfsTer16 amino acid substitution. genetic did detect same mutation any other screened members. Conclusion: international genotype-phenotype database (dbFGP) reports 6 probably associated classical phenotype report, variant. Similar situations literature variant, it represents important inter- intrafamilial variability shows de novo frequently found context