Clinical presentation, diagnosis, and long-term outcome of 29 patients with Wilson's disease;Presentación clínica, diagnóstico y evolución a largo plazo en 29 pacientes con enfermedad de Wilson

Revista Espanola de Enfermedades Digestivas

Volumn 100, Issue 8, 2008, Pages 456-461

  Rodrigo Agudo, J L ^a   Valdes Mas M ^a   Vargas Acosta, A M ^a   Ortiz Sanchez M L ^a   Gil Del Castillo, M L ^a   Carballo Alvarez L F ^a   Pons Miñano, José Antonio ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

Author keywords

Clinical presentation; Copper; Long term outcome; Wilson's disease

Indexed keywords

ACEXAMATE ZINC; AMINOTRANSFERASE; CERULOPLASMIN; COPPER; PENICILLAMINE; TRIENTINE;

ADULT; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CERULOPLASMIN BLOOD LEVEL; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONSULTATION; COPPER BLOOD LEVEL; CUPRURIA; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; DYSTONIA; FEMALE; FOLLOW UP; HUMAN; HUMAN TISSUE; KAYSER FLEISCHER RING; LABORATORY TEST; LIVER CIRRHOSIS; LIVER DISEASE; MALE; MEDICAL RECORD REVIEW; NEUROLOGIC DISEASE; POLYARTHRITIS; RASH; TREMOR; WEAKNESS; WILSON DISEASE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; INFANT; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES; TIME FACTORS; YOUNG ADULT;

EID: 57549102925     PISSN: 11300108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34: 295-507.
2. Frydman M. Genetic aspects of Wilson's disease. J Gastroenterol Hepatol 1990; 5: 483-90.
3. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007; 369: 397-408.
4. Kayser B. Über einen Fälle von grünliche Verfärbung der Cornea. Klin Mbl Augenheilk 1902; 40: 22-5.
5. Fleischer B. Zwei weitere Fälle von grünliche Verfärbung der Kornea. Klin Mbl Augenheilk 2003; 41: 489-91.
6. Bearn AG. A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 1960; 24: 33-43.
7. Cater MA, La Fontaine S, Shield K, Deal Y, Mercer JF. ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion. Gastroenterology 2006; 130: 493-506.
8. Holtzman NA, Gaumnitz BM. Studies on the rate of release and turnover of ceruloplasmin and apoceruloplasmin in rat plasma. J Biol Chem 1970; 245: 2354-8.
9. Schilsky ML. Wilson disease: genetic basis of copper toxicity and natural history. Semin Liver Dis 1996; 16: 83-95.
10. Brewer GJ. Recognition, diagnosis, and management of Wilson's disease. Proc Soc Exp Biol Med 2000; 223: 39-46.
11. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23: 139-42.
12. Cumings JN. The effect of BAL in hepatolenticular degeneration. Brain 1951; 74: 10-22.
13. Walshe JM. Wilson's disease. New oral therapy. Lancet 1956; i: 25-6.
14. Margarit E, Bach V, Gómez D, et al. Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet 2005; 68: 61-8.
15. García-Villarreal L, Daniels S, Shaw SH, et al. High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. Hepatology 2000; 32: 1329-36.
16. Brague A, Tomé S, García A, Carracedo A, Salas A. Clinical and molecular characterization of Wilson disease in Spanish patients. Hepatol Res 2007; 37: 18-26.
17. Castellano G, Blasco A, Ballesta F, et al. Enfermedad de Wilson. Un análisis retrospectivo de 12 casos. Rev Clin Esp 1992; 190: 223-8.
18. Sempere E, Pérez-Aguilar F, Burguera JA, Berenguer J. Enfermedad de Wilson: dificultades en el diagnóstico y manejo terapéutico en nuestro país. Rev Clin Esp 1989; 185: 348-53.
19. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson disease: a cohort study. Gut 2007; 56: 115-20.
20. Tary AB, Meenakshi-Sundaram S, Sanjib S, Swqmy HS, Arunodaya GA. Wilson disease. Description of 282 patients evaluated over 3 decades. Medicine 2008; 82: 112-21.
21. Memoria de 1984-2005 delRegistro español de transplante hepático español. Disponible en: http://www.ont.es/RETHMemGeneral? id_nodo=276&accion=0&&keyword=&auditoria=F.
22. European Liver Transplant Registry. Available at: http://www.eltr.org/ publi/results. php3? id_rubrique=44.
23. Steindl P, Ferenci P, Dienes HP, et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997; 113: 212-8.
24. Roberts EA, Schilsky ML. A practice guideline on Wilson disease. Hepatology 2003; 37 (6): 1475-92.
25. Bruguera M. Enfermedad de Wilson. Gastroenterol Hepatol 2006; 29: 29-33.
26. Sternlieb I, Scheinberg IH. Prevention of Wilson's in asymptomatic patients: prophylaxis of Wilson's disease. N Engl J Med 1968; 278: 352-5.
27. Brewer GJ, Askari FK. Wilson's disease: clinical management and therapy. J Hepatol 2005; 42 (Supl. 1): 513-21.
28. Iorio R, D'Ambrosi M, Marcellini M, Barbera C, Maggiore G, et al. Serum transaminases in children with Wilson's disease. J Pediatr Gastroenterol Nutr 2004; 39: 331-6.