Wilson's disease: experience of a reference center in Colombia
Journal: Advances in Medicine and Engineering Interdisciplinary Research DOI: 10.32629/ameir.v4i1.4932
Abstract
Introduction: Wilson's disease is a heterogeneous disorder caused by mutations in the ATP7B gene. Its clinical presentation is variable in hepatic and neuropsychiatric phenotypes. The aim of this study is to describe a retrospective cohort of patients. Materials and methods: A descriptive retrospective study was carried out in patients treated at the Hospital Pablo Tobón Uribe from January 2004 to September 2017. Results: 27 patients were reported, 17 men and 10 women. The mean follow-up time was 2.18 years. 40 % of the patients had neurological symptoms, 29 % psychiatric symptoms, and 85 % hepatic impairment. Lab tests showed that 85 % had low ceruloplasmin and 55 % had increased urinary copper. In cases that underwent liver biopsy, 7 had special copper colorations. Neuroimaging revealed that 84 % had findings suggestive of Wilson's disease and a pathogenic genetic mutation was documented in 3 cases. During follow-up, 51 % improved clinically or biochemically, 11 % remained stable, and 18 % deteriorated. 88 % of cases survived at the end of follow-up. Conclusions: This study is the largest retrospective cohort carried out in Colombia. The results are the basis for new population-based studies actively seeking this disease to describe its preclinical development and thus impact prognosis.
Keywords
hepatolenticular degeneration; copper-transporter ATPases; liver cirrhosis; acute liver failure; human ATP7B protein; basal ganglia diseases
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[17] Hartleb M, Zahorska-Markiewicz B, Ciesielski A. Wilson’s disease presenting in sisters as fulminant hepatitis with hemolytic episodes. Am J Gastroenterol. 1987;82(6):549-51.
[18] Korman JD, Volenberg I, Balko J, Webster J, Schiodt FV, Squires RH Jr, Fontana RJ, Lee WM, Schilsky ML; Pediatric and Adult Acute Liver Failure Study Groups. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology.2008;48(4):1167-74. https://doi.org/10.1002/hep.22446.
[19] Dzieżyc K, Litwin T, Członkowska A. Other organ involvement and clinical aspects of Wilson disease. Handb Clin Neurol. 2017;142:157-169. https://doi.org/10.1016/B978-0-444-63625-6.00013-6.
[20] Yu XE, Gao S, Yang RM, Han YZ. MR Imaging of the Brain in Neurologic Wilson Disease. AJNR Am J Neuroradiol. 2019;40(1):178-183. https://doi.org/10.3174/ajnr.A5936.
[21] Wenisch E, De Tassigny A, Trocello JM, Beretti J, GirardotTinant N, Woimant F. Cognitive profile in Wilson’s disease: a case series of 31 patients. Rev Neurol (Paris). 2013;169(12):944-9. https://doi.org/10.1016/j.neurol.2013.06.002.
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[23] Weiss KH, Gotthardt DN, Klemm D, Merle U, FerenciFoerster D, Schaefer M, Ferenci P, Stremmel W. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology. 2011;140(4):1189-1198.e1. https://doi.org/10.1053/j.gastro.2010.12.034.
[2] Broussolle E, Trocello JM, Woimant F, Lachaux A, Quinn N. Samuel Alexander Kinnier Wilson. Wilson’s disease, Queen Square and neurology. Rev Neurol (Paris). 2013;169(12):927-35. https://doi.org/10.1016/j.neurol.2013.04.006.
[3] Harada M, Kawaguchi T, Kumemura H, Terada K, Ninomiya H, Taniguchi E, Hanada S, Baba S, Maeyama M, Koga H, Ueno T, Furuta K, Suganuma T, Sugiyama T, Sata M. The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein. Am J Pathol. 2005;166(2):499-510. https://doi.org/10.1016/S0002-9440(10)62272-9.
[4] Gomes A, Dedoussis GV. Geographic distribution of ATP7B mutations in Wilson disease. Ann Hum Biol. 2016;43(1):1-8. https://doi.org/10.3109/03014460.2015.1051492.
[5] Trocello JM, Broussolle E, Girardot-Tinant N, Pelosse M, Lachaux A, Lloyd C, Woimant F. Wilson’s disease, 100 years later…. Rev Neurol (Paris). 2013;169(12):936-43. https://doi.org/10.1016/j.neurol.2013.05.002.
[6] Resolución 2048 de 2015, por la cual se actualiza el listado de enfermedades huérfanas y se define el número con el cual se identifica cada una de ellas en el sistema de información de pacientes con enfermedades huérfanas. Ministerio de salud y Protección Social, Republica de Colombia (9 de junio de 2015).
[7] Kim GH, Yang JY, Park JY, Lee JJ, Kim JH, Yoo HW. Estimation of Wilson’s disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system. Genet Test. 2008;12(3):395-9. https://doi.org/10.1089/gte.2008.0016.
[8] Kumar S, Thapa B, Kaur G, Prasad R. Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity. Mol Cell Biochem. 2007;294(1-2):1-10. https://doi.org/10.1007/s11010-005-9028-z.
[9] Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilsons disease: a cohort study. Gut. 2007;56(1):115-20. https://doi.org/10.1136/gut.2005.087262.
[10] Cheung KS, Seto WK, Fung J, Mak LY, Lai CL, Yuen MF. Epidemiology and natural history of Wilson’s disease in the Chinese: A territory-based study in Hong Kong between 2000 and 2016. World J Gastroenterol. 2017;23(43):7716-7726. https://doi.org/10.3748/wjg.v23.i43.7716.
[11] Hevia-Urrutia, F., Alvarado-Echeverría, I., Sanabria-Castro, A. Sánchez-Molina M, Meza-Sierra L, Parajeles-Vindas A, Méndez-Blanca O, Sánchez-Siles Á, Saborío-Rocafort M, Barguil-Gallardo M, Chavarría-Quirós I, Monge-Bonilla C. National alliance for Wilson’s disease: health policy in Costa Rica. Hepatology Medicine Policy 2017;2:5. https://doi.org/10.1186/s41124-016-0012-x.
[12] Pulido JN, Medina LA, De Castro A, Tamayo JG, Medina S, Restrepo JC. Enfermedad de Wilson. Acta Med Colomb. 2002;27:186-188.
[13] Castaño O, Gómez DM, Ocampo JM, Casanova ME. Degeneración hepatolenticular: a propósito de tres casos. Iatreia. 2017;30(4):436-442. http://dx.doi.org/10.17533/udea.iatreia.v30n4a07.
[14] Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, Schilsky M, Cox D, Berr F. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23(3):139-42. https://doi.org/10.1034/j.1600- 0676.2003.00824.x.
[15] Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995;9(2):210-7. https://doi.org/10.1038/ng0295-210.
[16] Kiss JE, Berman D, Van Thiel D. Effective removal of copper by plasma exchange in fulminant Wilson’s disease. Transfusion. 1998;38(4):327-31. https://doi.org/10.1046/j.1537-2995.1998.38498257369.x.
[17] Hartleb M, Zahorska-Markiewicz B, Ciesielski A. Wilson’s disease presenting in sisters as fulminant hepatitis with hemolytic episodes. Am J Gastroenterol. 1987;82(6):549-51.
[18] Korman JD, Volenberg I, Balko J, Webster J, Schiodt FV, Squires RH Jr, Fontana RJ, Lee WM, Schilsky ML; Pediatric and Adult Acute Liver Failure Study Groups. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology.2008;48(4):1167-74. https://doi.org/10.1002/hep.22446.
[19] Dzieżyc K, Litwin T, Członkowska A. Other organ involvement and clinical aspects of Wilson disease. Handb Clin Neurol. 2017;142:157-169. https://doi.org/10.1016/B978-0-444-63625-6.00013-6.
[20] Yu XE, Gao S, Yang RM, Han YZ. MR Imaging of the Brain in Neurologic Wilson Disease. AJNR Am J Neuroradiol. 2019;40(1):178-183. https://doi.org/10.3174/ajnr.A5936.
[21] Wenisch E, De Tassigny A, Trocello JM, Beretti J, GirardotTinant N, Woimant F. Cognitive profile in Wilson’s disease: a case series of 31 patients. Rev Neurol (Paris). 2013;169(12):944-9. https://doi.org/10.1016/j.neurol.2013.06.002.
[22] Weiss KH, Thurik F, Gotthardt DN, Schäfer M, Teufel U, Wiegand F, Merle U, Ferenci-Foerster D, Maieron A, Stauber R, Zoller H, Schmidt HH, Reuner U, Hefter H, Trocello JM, Houwen RH, Ferenci P, Stremmel W; EUROWILSON Consortium. Efficacy and safety of oral chelators in treatment of patients with Wilson disease. Clin Gastroenterol Hepatol. 2013;11(8):1028-35.e1-2. https://doi.org/10.1016/j.cgh.2013.03.012.
[23] Weiss KH, Gotthardt DN, Klemm D, Merle U, FerenciFoerster D, Schaefer M, Ferenci P, Stremmel W. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology. 2011;140(4):1189-1198.e1. https://doi.org/10.1053/j.gastro.2010.12.034.
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