title: Fabry's Disease: Case Series and Review of Literature.
abstract: Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare cause of end-stage renal disease. It classically affects males whereas 10-15% of female heterozygote carriers are affected depending on localization. Both the FD and its association with ESRD is rare. With this background, this case series of five patient's along with the review of literature is presented here.
authors.affiliation: Department of Nephrology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
authors.forename: Muzaffar Maqsood
authors.initials: MM
authors.lastname: Wani
authors.affiliation: Department of Internal Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
authors.forename: Imran
authors.initials: I
authors.lastname: Khan
authors.affiliation: Department of Internal Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
authors.forename: Riyaz Ahmad
authors.initials: RA
authors.lastname: Bhat
authors.affiliation: Department of Internal Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
authors.forename: Muzaffar
authors.initials: M
authors.lastname: Ahmad
keywords: Alpha-galactosidase A; End-stage renal disease; Fabry's disease; Kidney transplantation; Proteinuria