%0 Journal Article
%T Fabry's Disease: Case Series and Review of Literature
%A Imran Khan
%A Muzaffar Ahmad
%A Muzaffar Maqsood Wani
%A Riyaz Ahmad Bhat
%J Archive of "Annals of Medical and Health Sciences Research".
%D 2016
%R 10.4103/2141-9248.183935
%X 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¨C15% 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
%K Alpha-galactosidase A
%K End-stage renal disease
%K Fabry's disease
%K Kidney transplantation
%K Proteinuria
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4924496/