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Navigable Slide Index

1. Introduction
2. Fabry disease
3. Metabolic defect - accumulation of GL-3
4. GL-3 deposits in vascular endothelium
5. Progression in affected males
6. Inheritance
7. Progression in affected females
8. Multisystemic manifestations
9. Angiokeratomas
10. Corneal whorls
11. Diagnosis of Fabry disease
12. Differential diagnosis
13. Classical presentation Fabry disease
14. Classical presentation - MRI
15. Classical presentation - kidney biopsy (1)
16. Classical presentation - kidney biopsy (2)
17. Zebra bodies
18. Zebra bodies in EM
19. Less severe presentation in an older brother
20. Renal biopsy findings
21. Involvement of tubules
22. Zebra bodies in kidney glomerulus
23. Heavy dense deposits in EM
24. Fabry disease: affected females
25. Foamy cytoplasmic inclusion
26. Foamy cytoplasmic inclusion - higher power view
27. Cardiac involvement (1)
28. Cardiac involvement (2)
29. Cardiac involvement (3)
30. Summary of kidney pathology
31. Treatment of Fabry disease with renal involvement
32. Renal transplant
33. Enzyme therapy in transplant
34. End stage renal disease in Fabry
35. Patient survival on dialysis
36. Enzyme therapy in dialysis
37. Enzyme replacement therapy - drugs
38. ERT - trials
39. Phase 3 - complete endothelial clearance
40. GL-3 cleared from kidney
41. ERT (1)
42. ERT (2)
43. Similarities of Fabry disease and diabetes
44. Fabry and diabetic nephropathy - management
45. 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:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Cardiovascular & Metabolic

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 22, 2024, from https://doi.org/10.69645/IYBN9461.
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Publication History

• Published on October 1, 2007

Financial Disclosures

• Prof. David Warnock has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.