Fabry’s Disease: Case Series and Review of Literature

  • Muzaffar Maqsood Wani
  • Imran Khan
  • Riyaz Ahmad Bhat
  • Muzaffar Ahmad
Keywords: Alpha‑galactosidase A, End‑stage renal disease, Fabry’s disease, Kidney transplantation, Proteinuria

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.

Keywords: Alpha‑galactosidase A, End‑stage renal disease, Fabry’s disease, Kidney transplantation, Proteinuria

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print ISSN: 2141-9248