Wilson's disease in southern Brazil: A 40-year follow-up study

Clinics

Volumn 66, Issue 3, 2011, Pages 411-416

  de Bem, Ricardo Schmitt ^a   Muzzillo, Dominique Araujo ^a   Deguti, Marta Mitiko ^b   Barbosa, Egberto Reis ^b   Werneck, Lineu César ^a   Teive, Hélio Afonso Ghizoni ^a  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Genetic and inherited disorders; Medication; Outcome; Treatment; Wilson's disease

Indexed keywords

CHELATING AGENT; PENICILLAMINE;

ADOLESCENT; ADULT; AGE; AGE DISTRIBUTION; ARTICLE; BRAZIL; CHILD; ETHNOLOGY; FEMALE; FOLLOW UP; HUMAN; LIVER; MALE; MIDDLE AGED; PATHOLOGY; RETROSPECTIVE STUDY; SEX RATIO; SURVIVAL RATE; TIME; TREATMENT OUTCOME; WILSON DISEASE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGE FACTORS; BRAZIL; CHELATING AGENTS; CHILD; FEMALE; FOLLOW-UP STUDIES; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER; MALE; MIDDLE AGED; PENICILLAMINE; RETROSPECTIVE STUDIES; SEX DISTRIBUTION; SURVIVAL RATE; TIME FACTORS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 79957626884     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1807-59322011000300008     Document Type: Article

References (35)

1. Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295, doi: 10. 1093/brain/34.4.295.
2. Walshe JM. Wilson's Disease. New oral therapy. Lancet. 1956;i: 25-6.
3. Brewer GJ, Gurkan VY. Wilson Disease. Medicine. 1992;71:139-64, doi: 10.1097/00005792-199205000-00004.
4. Ferenci P. Regional distribution of mutations of the atp7b gene in patients with Wilson Disease: impact on genetic testing. Hum Genet. 2006;120:151-9, doi: 10.1007/s00439-006-0202-5.
5. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, et al. The Wilson Disease gene is a copper transporting atpase with homology to the Menkes Disease gene. Nat Genet. 1993;5:344-50, doi: 10.1038/ ng1293-344.
6. Bull PC, Thomas GR, Forbes J, Rommens JM, Cox DW. The Wilson Disease gene is a putative cooper transporting p-type ATPase similar to Menkes gene. Nat Genet. 1993;5:327-37, doi: 10.1038/ng1293-327.
7. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson Disease. Biochem Biophys Res Commun. 1993;197:271-7, doi: 10.1006/bbrc.1993.2471.
8. Schilsky ML, Oikonomou I. Inherited metabolic liver disease. Curr Opin Gastroenterol. 2005;31:275-82, doi: 10.1097/01.mog.0000159821.78532.21.
9. Ferenci P, Caca K, Loudianos G, Mielli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson Disease. Liver Int. 2003;23:139-42, doi: 10.1034/j.1600-0676.2003.00824.x.
10. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's Disease. Lancet. 2007;369:397-408, doi: 10.1016/S0140-6736(07)60196-2.
11. Child CG, Turcotte JG. Surgery and Portal Hypertension. In: Child CG, editor. The Liver and Portal Hypertension. Philadelphia: Saunders. 1964:50-64.
12. Rubinstein SS, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, et al. Clinical assessment of 31 patients with Wilson's Disease. Correlations with structural changes on magnetic resonance imaging. Arch Neurol. 1987;44:365-70.
13. Strickland GT, Leu ML. Wilson's Disease: clinical and laboratory manifestations in 40 patients. Medicine. 1975;54:113-37.
14. Bono W, Moutie O, Benomar A, Aïdi S, El Alaqui-Faris M, Yahyaqui M, et al. La Maladie de Wilson. Étude clinique, thérapeutique et evolutive de 21 cas. Rev Méd Interne. 2002;23: 419-31, doi: 10.1016/S0248-8663(02)00589-1.
15. Kumagi T, Horiike N, Michitaka K, Hasebe A, Kaway K, Tokumoto Y, et al. Recent clinical features of Wilson's Disease with hepatic presentation. J Gastroenterol. 2004;39:1165-69, doi: 10.1007/s00535-004-1466-y.
16. Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson Disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology. 2005;41:668-70, doi: 10.1002/hep.20601.
17. Corrêa LS. As políticas públicas de imigração européia não portuguesa para o Brasil-de Pombal à República. Revista geo-paisagem 2005;4:8.
18. IBGE. Brasil 500 anos de povoamento. Rio de Janeiro: IBGE, 2000.
19. Machado AAC, Chien HF, Deguti MM, Genschel J, Cançado E, Bochow B, et al. Neurological manifestations in Wilson's Disease: report of 119 cases. Mov Disord. 2006;21:2192-6, doi: 10.1002/mds.21170.
20. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's Disease: a cohort study. Gut. 2007;56:115-20, doi: 10.1136/gut.2005.087262.
21. Pfeiffer RF. Wilson's Disease. Semin Neurol. 2007;27:123-32, doi: 10. 1055/s-2007-971173.
22. Brewer GJ. Wilson's Disease: a clinician's guide to recognition, diagnosis, and management. Boston: Kluwer Academic Publishers, 2001.
23. Durand F. Wilson's Disease: an old disease keeps its old secrets. Eur J Gastroenterol Hepatol. 2007;19:97-9, doi: 10.1097/MEG.0b013e32800fef34.
24. Faa G. The role of the pathologist in the diagnosis and monitoring of Wilson's Disease. Pathologica. 1996;88:102-10.
25. Finelli PF. Kayser-Fleischer ring: Hepatolenticular Degeneration (Wilson's Disease). Neurology. 1995;45:1261-2.
26. Wiebers DO, Hollenhorst RW, Goldstein NP. The ophthalmologic manifestations of Wilson's Disease. Mayo Clin Proc. 1977;52:409-16.
27. Ross ME, Jacobsen IM, Dienstag DL, Martin JB. Late onset Wilson's Disease with neurological involvement in the absence of Kayser-Fleischer rings. Ann Neurol. 1985;17:411-13, doi: 10.1002/ana.410170421.
28. Prashanth LK, Sinha S, Taly AB, Vasudev MK. Do MRI features distinguish Wilson's Disease from other early onset extrapyramidal disorders? An analysis of 100 cases. Mov Disord. 2010;25:672-8.
29. Kozic D, Svetel M, Petrovic B, Dragasevic N, Semnic R, Kostik VS. MR imaging of the brain in patients with hepatic form of Wilson's Disease. Eur J Neurol. 2003;10:587-92, doi: 10.1046/j.1468-1331.2003.00661.x.
30. Sinha S, Taly AB, Ravishankar S, Prashanth LK, Arunodaya GR, VenugopaL KS, et al. Wilson's Disease: cranial mri observations and clinical correlation. Neuroradiology. 2006;48: 613-21, doi: 10.1007/ s00234-006-0101-4.
31. Lowette KF, Desmet K, Witters P, Laleman W, Verslype C, Nevens F, et al. Wilson's Disease: long-term follow-up of a cohort of 24 patients treated with d-penicillamine. Eur J Gastroenterol Hepatol. 2010;22:564-71, doi: 10.1097/MEG.0b013e3283353df8.
32. Daniel KG, Harbach RH, Guida WC, Dou QP. Copper storage diseases: Menkes, Wilsons, and cancer. Front Biosci. 2004;1:2652-62, doi: 10.2741/ 1424.
33. Shagen Van Leeuwen JH, Christiaens GC, Hoogenraad TU. Recurrent abortion and the diagnosis of Wilson Disease. Obstet Gynecol. 1991;78: 547-9.
34. Sinha S, Taly AB, Prashanth LK, Arunodaya GR, Swamy HS. Successful pregnancies and abortions in symptomatic and asymptomatic Wilson's Disease. J Neurol Sci. 2004;217:37-40, doi: 10.1016/j.jns.2003. 08.007.
35. Komal Kumar RN, Taly AB, Nair KPS, Sinha S, Rao S, Vidya N, et al. Quality of life in Wilson's Disease. Ann Indian Acad Neurol 2008;11:37-40, doi: 10.4103/0972-2327.40224.