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Wilson Disease
Derik L. Davis, MD; 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

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Ji JH et al: A rare case of multiple and huge simple bone cysts in Wilson's disease. J Orthop Surg (Hong Kong). 27(2):2309499019843141, 2019
                                2. Almes M et al: Unusual osseous presentation of Wilson disease in a child. Arch Pediatr. 24(12):1324-7, 2017
                                3. Bhatnagar N et al: Pathological fracture of femoral neck leading to a diagnosis of Wilson's disease: a case report and review of literature. J Bone Metab. 24(2):135-9, 2017
                                4. 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
                                5. Weiss KH et al: Bone demineralisation in a large cohort of Wilson disease patients. J Inherit Metab Dis. 38(5):949-56, 2015
                                6. 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
                                7. 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
                                8. Manolaki N et al: Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr. 48(1):72-7, 2009
                                9. Veldhuis NA et al: The multi-layered regulation of copper translocating P-type ATPases. Biometals. 22(1):177-90, 2009
                                10. 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
                                11. Kazemi K et al: Effect of D-penicillamine on liver fibrosis and inflammation in Wilson disease. Exp Clin Transplant. 6(4):261-3, 2008
                                12. 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
                                13. 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
                                14. 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
                                15. Ray K et al: Gene symbol: ATP7B. Disease: Wilson disease. Hum Genet. 124(3):297, 2008
                                16. Roberts EA et al: American Association for Study of Liver Diseases (AASLD): Diagnosis and treatment of Wilson disease: an update. Hepatology. 47(6):2089-111, 2008
                                17. Thapa R et al: Acute Wilson disease associated with E beta-thalassemia. J Pediatr Hematol Oncol. 30(12):925-7, 2008
                                18. 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

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Ji JH et al: A rare case of multiple and huge simple bone cysts in Wilson's disease. J Orthop Surg (Hong Kong). 27(2):2309499019843141, 2019
                                                              2. Almes M et al: Unusual osseous presentation of Wilson disease in a child. Arch Pediatr. 24(12):1324-7, 2017
                                                              3. Bhatnagar N et al: Pathological fracture of femoral neck leading to a diagnosis of Wilson's disease: a case report and review of literature. J Bone Metab. 24(2):135-9, 2017
                                                              4. 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
                                                              5. Weiss KH et al: Bone demineralisation in a large cohort of Wilson disease patients. J Inherit Metab Dis. 38(5):949-56, 2015
                                                              6. 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
                                                              7. 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
                                                              8. Manolaki N et al: Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr. 48(1):72-7, 2009
                                                              9. Veldhuis NA et al: The multi-layered regulation of copper translocating P-type ATPases. Biometals. 22(1):177-90, 2009
                                                              10. 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
                                                              11. Kazemi K et al: Effect of D-penicillamine on liver fibrosis and inflammation in Wilson disease. Exp Clin Transplant. 6(4):261-3, 2008
                                                              12. 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
                                                              13. 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
                                                              14. 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
                                                              15. Ray K et al: Gene symbol: ATP7B. Disease: Wilson disease. Hum Genet. 124(3):297, 2008
                                                              16. Roberts EA et al: American Association for Study of Liver Diseases (AASLD): Diagnosis and treatment of Wilson disease: an update. Hepatology. 47(6):2089-111, 2008
                                                              17. Thapa R et al: Acute Wilson disease associated with E beta-thalassemia. J Pediatr Hematol Oncol. 30(12):925-7, 2008
                                                              18. Xie YZ et al: Radiologic study of 42 cases of Wilson disease. Skeletal Radiol. 13(2):114-9, 1985