Wilson Disease provides a comprehensive guide on this inherited genetic disorder that has devastating consequences for both the liver and neurologic/psychiatric health. This disease is of increasing interest to neurologists, hepatologists, and geneticists, but when the disease is diagnosed early, it is treatable, with patients living normal lives.
This volume describes the molecular pathophysiology of WD and the clinical and pathological effects of copper. Separate sections address both diagnosis and medical and surgical approaches to treatment. Both adult and pediatric perspectives on diagnosis and treatment are addressed, and a section on genetics highlights advances in molecular diagnostics. Patient support groups that can aid in coping with this disease are also discussed, as are animal models for those interested in basic research on cell biology, pathophysiology, and treatment.
1. Chapter 2: Epidemiology and introduction to the clinical presentation of Wilson disease - p. 7 2. Chapter 3: The genetics of Wilson disease - p. 19 3. Chapter 4: Genetic and environmental modifiers of Wilson disease - p. 35 4. Chapter 5: Pathogenesis of Wilson disease - p. 43 5. Chapter 6: Animal models of Wilson disease - p. 57 6. Chapter 7: Wilson disease – liver pathology - p. 71 7. Chapter 8: Wilson disease: brain pathology - p. 77 8. Chapter 9: Hepatic features of Wilson disease - p. 91 9. Chapter 10: Wilson disease: neurologic features - p. 101 10. Chapter 11: Cognitive and psychiatric symptoms in Wilson disease - p. 121 11. Chapter 12: Wilson disease in children - p. 141 12. Chapter 13: Other organ involvement and clinical aspects of Wilson disease - p. 157 13. Chapter 14: Diagnosis of Wilson disease - p. 171 14. Chapter 15: Wilson disease – currently used anticopper therapy - p. 181 15. Chapter 16: Liver transplantation for Wilson disease - p. 193 16. Chapter 17: Wilson disease: symptomatic liver therapy - p. 205 17. Chapter 18: Symptomatic treatment of neurologic symptoms in Wilson disease - p. 211 18. Chapter 19: Novel perspectives on Wilson disease treatment - p. 225 19. Chapter 20: Patient support groups in the management of Wilson disease - p. 231 20. Index - p. 241
Wilson Disease provides a comprehensive guide on this inherited genetic disorder that has devastating consequences for both the liver and neurologic/psychiatric health. This disease is of increasing interest to neurologists, hepatologists, and geneticists, but when the disease is diagnosed early, it is treatable, with patients living normal lives.
This volume describes the molecular pathophysiology of WD and the clinical and pathological effects of copper. Separate sections address both diagnosis and medical and surgical approaches to treatment. Both adult and pediatric perspectives on diagnosis and treatment are addressed, and a section on genetics highlights advances in molecular diagnostics. Patient support groups that can aid in coping with this disease are also discussed, as are animal models for those interested in basic research on cell biology, pathophysiology, and treatment.
1. Chapter 2: Epidemiology and introduction to the clinical presentation of Wilson disease - p. 7 2. Chapter 3: The genetics of Wilson disease - p. 19 3. Chapter 4: Genetic and environmental modifiers of Wilson disease - p. 35 4. Chapter 5: Pathogenesis of Wilson disease - p. 43 5. Chapter 6: Animal models of Wilson disease - p. 57 6. Chapter 7: Wilson disease – liver pathology - p. 71 7. Chapter 8: Wilson disease: brain pathology - p. 77 8. Chapter 9: Hepatic features of Wilson disease - p. 91 9. Chapter 10: Wilson disease: neurologic features - p. 101 10. Chapter 11: Cognitive and psychiatric symptoms in Wilson disease - p. 121 11. Chapter 12: Wilson disease in children - p. 141 12. Chapter 13: Other organ involvement and clinical aspects of Wilson disease - p. 157 13. Chapter 14: Diagnosis of Wilson disease - p. 171 14. Chapter 15: Wilson disease – currently used anticopper therapy - p. 181 15. Chapter 16: Liver transplantation for Wilson disease - p. 193 16. Chapter 17: Wilson disease: symptomatic liver therapy - p. 205 17. Chapter 18: Symptomatic treatment of neurologic symptoms in Wilson disease - p. 211 18. Chapter 19: Novel perspectives on Wilson disease treatment - p. 225 19. Chapter 20: Patient support groups in the management of Wilson disease - p. 231 20. Index - p. 241
