Novel Frameshift Mutation in a Heterozygous Woman with Fabry Disease and End-Stage Renal Failure

Abstract

(1) end-stage renal disease may occur in heterozygous women with Fabry disease; (2) morphologic lesions due to glycosphingolipid accumulation may be observed in the renal allograft after transplantation, and (3) DNA analysis confirmed the diagnosis by demonstrating a frameshift mutation, which has as yet not been reported.