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Printable Handouts

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Navigable Slide Index

1. Introduction
2. Speaker's personal background
3. Clinical expression of Gaucher disease (GD)
4. Molecular basis of Gaucher disease
5. Enzyme deficiency & lysosomal lipid accumulation
6. Type 1 Gaucher disease
7. Genetic & phenotypic heterogeneity
8. Discordant monozygotic Gaucher twins
9. Sources of GlcCer substrate
10. Gaucher cells driving visceral pathology
11. Is type 1 GD only a disorder of macrophages?
12. Disease; storage cells; therapeutic correction
13. Therapies for type 1 Gaucher disease
14. Enzyme replacement therapy
15. Disease; storage cells; biomarkers
16. Protein biomarkers
17. Chitotriosidase: a marker for Gaucher disease
18. Gaucher cells as source of chitotriosidase
19. Chitotriosidase: the human macrophage chitinase
20. Plasma chitotriosidase changes upon ERT
21. Use in clinical management of type 1 GD patients
22. Chitotriosidase plasma levels
23. Pitfalls with chitotriosidase measurement
24. Superior substrate for chitotriosidase assay
25. Chitotriosidase deficiency
26. Chemokine CCL18/PARC
27. Elevated CCL18 levels in Gaucher serum
28. Protein composition of Gaucher cells: proteomics
29. Galectin-3: newly discovered protein abnormality
30. Markers of skeletal disease in Gaucher patients
31. MIP-1alpha and MIP-1beta in GD plasma
32. Gaucher cells don't produce MIP-1beta or alpha
33. Plasma MIP-1beta and skeletal disease
34. Potential lipid biomarkers
35. Increased plasma GlcCer and GM3 in type 1 GD
36. Increased plasma GlcSph in type 1 GD
37. Plasma GlcSph correction by ERT
38. Plasma GlcSph and disease manifestations
39. Glucosylsphingosine: a cytotoxic compound
40. Plasma GlcSph: a Gaucher biomarker
41. Other pathologies related to Gaucher disease
42. Skin pathophysiology
43. Brain pathophysiology: different hypotheses
44. Bone disease
45. Osteoporosis in Gaucher disease
46. Metabolic abnormalities
47. Impaired insulin sensitivity
48. Growth retardation
49. Increased risk for cancer
50. Increased risk for parkinsonism
51. Immune system: the missing link?
52. Acknowledgements

Topics Covered

• Gaucher disease
• Clinical manifestations
• Primary defect: gene, enzyme, storage material
• Visceral pathology: organomegaly and haematological complications
• Gaucher cells: lipid-laden macrophages
• Circulating markers for storage cells
• Therapy
• Other pathological aspects of Gaucher disease: bone, brain, body metabolism

Links

Series:

• Macrophage Heterogeneity and Function

Categories:

• Clinical Practice
• Immunology

Therapeutic Areas:

• Immunology & Inflammation

Talk Citation

Publication History

• Published on January 30, 2013

Financial Disclosures

• Prof. Johannes M.F.G. Aerts has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.