Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of European or North American descent. It is usually referred to as a cardiac variant, although manifestations in other organ systems have been observed. In this report, we describe a nephropathy presentation in two related Chinese Fabry disease patients with p.N215S.
Keywords: Chinese; Fabry disease; Fabry nephropathy; Later-onset variant; Non-classic phenotype Fabry; Variant Fabry; α-galactosidase A.
© 2020 The Authors.