FABRY DISEASE. (February 2015)

• Record Type: Journal Article
• Authors: Edirisinghe, Amalika; Sy, Joanne
• Is Part Of: Pathology. Volume 47(2015)Supplement 1
• Publication Date: 2015-02
• Subjects: Pathology -- Periodicals; 616.0705
• DOI: 10.1097/01.PAT.0000461481.04925.84
• Languages: English
• ISSNs: 0031-3025

Abstract

Abstract : Fabry disease is an X-linked recessive lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme α-Galactosidase A (α-Gal A). It affects all male hemizygotes and some female heterozygotes and has an estimated prevalence between 1 per 40, 000 and 1 per 60, 000 in males. In female heterozygotes the presentation is variable. This case report is of a late presentation of Fabry disease in a 49-year-old lady who presented with persistent elevated proteinuria. The case highlights the renal biopsy findings at light microscopy and electron microscopy, with subsequent confirmation of Fabry disease by genetic testing. References Alroy J, Sabnis S, Kopp J. Renal pathology in Fabry disease. J Am Soc Nephrol 2002; 13: S134–8. Faraggiana T, Churg J, Grishman E, et al . Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 1981; 103: 247–62. Fischer EG, Moore MJ, Lager DL. Fabry disease: a morphological study of 11 cases. Mod Pathol 2006; 19: 1295–301.