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Printable Handouts
Navigable Slide Index
- Introduction
- Fabry disease
- Metabolic defect - accumulation of GL-3
- GL-3 deposits in vascular endothelium
- Progression in affected males
- Inheritance
- Progression in affected females
- Multisystemic manifestations
- Angiokeratomas
- Corneal whorls
- Diagnosis of Fabry disease
- Differential diagnosis
- Classical presentation Fabry disease
- Classical presentation - MRI
- Classical presentation - kidney biopsy (1)
- Classical presentation - kidney biopsy (2)
- Zebra bodies
- Zebra bodies in EM
- Less severe presentation in an older brother
- Renal biopsy findings
- Involvement of tubules
- Zebra bodies in kidney glomerulus
- Heavy dense deposits in EM
- Fabry disease: affected females
- Foamy cytoplasmic inclusion
- Foamy cytoplasmic inclusion - higher power view
- Cardiac involvement (1)
- Cardiac involvement (2)
- Cardiac involvement (3)
- Summary of kidney pathology
- Treatment of Fabry disease with renal involvement
- Renal transplant
- Enzyme therapy in transplant
- End stage renal disease in Fabry
- Patient survival on dialysis
- Enzyme therapy in dialysis
- Enzyme replacement therapy - drugs
- ERT - trials
- Phase 3 - complete endothelial clearance
- GL-3 cleared from kidney
- ERT (1)
- ERT (2)
- Similarities of Fabry disease and diabetes
- Fabry and diabetic nephropathy - management
- Fabry disease - conclusions
Topics Covered
- Diagnosis of Fabry disease
- Metabolic defect: GL-3 accumulation
- Multi-systemic manifestations
- Case examples
- Kidney pathology in Fabry disease
- Enzyme therapy
- Dialysis and transplantation
- Analogy to diabetic nephropathy
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Warnock, D. (2007, October 1). Fabry disease: alfa-galactosidase A deficiency and enzyme replacement therapy [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 1, 2024, from https://doi.org/10.69645/IYBN9461.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. David Warnock has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
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