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Wilson Disease
B.J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Hepatolenticular degeneration
            • Definitions

              • Inherited disorder characterized by accumulation of copper in tissues

            IMAGING

            • General Features

              • Radiographic Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Gross Pathologic & Surgical Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Treatment

                              Selected References

                              1. Raju K et al: Wilson's disease: A clinical autopsy case report with review of literature. J Nat Sci Biol Med. 6(1):248-52, 2015
                              2. Kozić DB et al: Reversible lesions in the brain parenchyma in Wilson's disease confirmed by magnetic resonance imaging: earlier administration of chelating therapy can reduce the damage to the brain. Neural Regen Res. 9(21):1912-6, 2014
                              3. Hursitoglu M et al: Clinical improvement of a patient with severe Wilson's disease after a single session of therapeutic plasma exchange. J Clin Apher. 24(1):25-7, 2009
                              4. Manolaki N et al: Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr. 48(1):72-7, 2009
                              5. Veldhuis NA et al: The multi-layered regulation of copper translocating P-type ATPases. Biometals. 22(1):177-90, 2009
                              6. Yoshitoshi EY et al: Long-term outcomes for 32 cases of Wilson's disease after living-donor liver transplantation. Transplantation. 87(2):261-7, 2009
                              7. Kazemi K et al: Effect of D-penicillamine on liver fibrosis and inflammation in Wilson disease. Exp Clin Transplant. 6(4):261-3, 2008
                              8. Kucinskas L et al: High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease. World J Gastroenterol. 14(38):5876-9, 2008
                              9. Larnaout A et al: Wilson's disease: appreciable improvement of sub-cortical white matter abnormalities after copper chelating treatment: five years follow-up. Neuropediatrics. 39(3):176-8, 2008
                              10. Prochazkova D et al: Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease. Bratisl Lek Listy. 109(10):434-7, 2008
                              11. Ray K et al: Gene symbol: ATP7B. Disease: Wilson disease. Hum Genet. 124(3):297, 2008
                              12. Thapa R et al: Acute Wilson disease associated with E beta-thalassemia. J Pediatr Hematol Oncol. 30(12):925-7, 2008
                              13. Xie YZ et al: Radiologic study of 42 cases of Wilson disease. Skeletal Radiol. 13(2):114-9, 1985
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Top Differential Diagnoses

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Synonyms

                                          • Hepatolenticular degeneration
                                        • Definitions

                                          • Inherited disorder characterized by accumulation of copper in tissues

                                        IMAGING

                                        • General Features

                                          • Radiographic Findings

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                • Gross Pathologic & Surgical Features

                                                  • Microscopic Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Treatment

                                                          Selected References

                                                          1. Raju K et al: Wilson's disease: A clinical autopsy case report with review of literature. J Nat Sci Biol Med. 6(1):248-52, 2015
                                                          2. Kozić DB et al: Reversible lesions in the brain parenchyma in Wilson's disease confirmed by magnetic resonance imaging: earlier administration of chelating therapy can reduce the damage to the brain. Neural Regen Res. 9(21):1912-6, 2014
                                                          3. Hursitoglu M et al: Clinical improvement of a patient with severe Wilson's disease after a single session of therapeutic plasma exchange. J Clin Apher. 24(1):25-7, 2009
                                                          4. Manolaki N et al: Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr. 48(1):72-7, 2009
                                                          5. Veldhuis NA et al: The multi-layered regulation of copper translocating P-type ATPases. Biometals. 22(1):177-90, 2009
                                                          6. Yoshitoshi EY et al: Long-term outcomes for 32 cases of Wilson's disease after living-donor liver transplantation. Transplantation. 87(2):261-7, 2009
                                                          7. Kazemi K et al: Effect of D-penicillamine on liver fibrosis and inflammation in Wilson disease. Exp Clin Transplant. 6(4):261-3, 2008
                                                          8. Kucinskas L et al: High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease. World J Gastroenterol. 14(38):5876-9, 2008
                                                          9. Larnaout A et al: Wilson's disease: appreciable improvement of sub-cortical white matter abnormalities after copper chelating treatment: five years follow-up. Neuropediatrics. 39(3):176-8, 2008
                                                          10. Prochazkova D et al: Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease. Bratisl Lek Listy. 109(10):434-7, 2008
                                                          11. Ray K et al: Gene symbol: ATP7B. Disease: Wilson disease. Hum Genet. 124(3):297, 2008
                                                          12. Thapa R et al: Acute Wilson disease associated with E beta-thalassemia. J Pediatr Hematol Oncol. 30(12):925-7, 2008
                                                          13. Xie YZ et al: Radiologic study of 42 cases of Wilson disease. Skeletal Radiol. 13(2):114-9, 1985