:
Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation
of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as
other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis,
angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations
lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion,
a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s
disease is confirmed by the demonstration of the absence of or reduced alpha-galactosidase A enzyme activity in
hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in
biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by
enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new
strategic approaches such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy,
and viral gene therapy.
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This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry
disease.
Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
