Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy

摘要

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.