title: Unexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function.
abstract: Fabry disease is an X-linked recessive lysosomal storage disease caused by a deficiency of α-galactosidase A, with characteristic ultrastructural cytoplasmic myelin-like inclusions. Renal lesions are seen in male and variably in heterozygous female patients. One previous report has described Fabry disease involving a renal allograft from a deceased female donor with no history of Fabry disease. The authors describe another case, in which suspicion for Fabry disease was raised ultrastructurally. This serves as a reminder that proteinuria after renal transplantation may be due to donor-derived disease. Fabry disease is probably an underrecognized cause of graft dysfunction. This case provides further justification for ultrastructural examination of renal allograft biopsies.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Virginia, Charlottesville, Virginia 22908, USA.
authors.forename: Olga
authors.initials: O
authors.lastname: Kochar
authors.forename: Mark R
authors.initials: MR
authors.lastname: Wick
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Kerr
authors.forename: Devin
authors.initials: D
authors.lastname: Oglesbee
authors.forename: Helen P
authors.initials: HP
authors.lastname: Cathro
mesh_terms: D000208:Acute Disease; D000328:Adult; D001706:Biopsy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D005260:Female; D006084:Graft Rejection / Q000209:etiology; D006801:Humans; D007668:Kidney / Q000601:surgery / Q000648:ultrastructure*; D007676:Kidney Failure, Chronic / Q000601:surgery*; D016030:Kidney Transplantation / Q000009:adverse effects*; D008297:Male; D011507:Proteinuria / Q000209:etiology; D013997:Time Factors; D014184:Transplantation, Homologous; D016896:Treatment Outcome