Unusual history of Wilson disease: a case report and review of the literature

Česká verzia

Authors: František Nehaj ¹; Marianna Kubašková ²; Michal Mokáň ¹; Juraj Sokol ³; Vladimír Nosáľ ⁴; Kamil Zeleňák ²; Marián Mokáň ¹
Authors place of work: I. Interná klinika JLF UK a UN Martin, Slovenská republika ¹; Rádiologická klinika JLF UK a UN Martin, Slovenská republika ²; Klinika hematológie a transfuziológie, Národné centrum hemostázy a trombózy JLF UK a UN Martin, Slovenská republika ³; Neurologická klinika JLF UK a UN Martin, Slovenská republika ⁴
Published in the journal: Vnitř Lék 2017; 63(12): 980-986
Category: Case Reports

Summary

Wilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13^th chromosome. The enzyme ATPase plays an important role in WD. It facilitates excretion of copper into bile. This gene is responsible for modification of apoceruloplasmin. In this disease, it leads to insufficient release of copper from organism and accumulation of copper in organs such as liver, brain which can cause dysfunction of a certain organ. According to specific symptoms, we can divide WD into psychiatric, neurologic or hepatic form. The WD usually manifests between 15 and 25 years of age. Hepatic form often occurs sooner, on the contrary, the neurological variant usually occur during the later stages. We present a case report of 45-years-old woman with atypical medical history of WD, in which the diagnostic process was very long and had interdisciplinary character.

Key words:
brain – copper – diagnostic – genetics – liver – panda – Wilson disease

Zdroje

1. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47(6): 2089–2111. Dostupné z DOI: <http://dx.doi.org/10.1002/hep.22261>.

2. Mareček Z, Brůha R. Wilsonova choroba. Vnitř Lék 2013; 59(7): 578–583.

3. Lorincz MT. Neurologic Wilson‘s disease. Ann N Y Acad Sci 2010; 1184: 173–187. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1749–6632.2009.05109.x>.

4. Merle U, Schaefer M, Ferenci P et al. Clinical presentation, diagnosis and long-term outcome of Wilson‘s disease: a cohort study. Gut 2007; 56(1): 115–120.

5. Akil M, Brewer GJ. Psychiatric and behavioral abnormalities in Wilson’s disease. Adv Neurol 1995; 65: 171–178.

6. Svetel M, Potrebic A, Pekmezovic T et al. Neuropsychiatric aspects of treated Wilson‘s disease. Parkinsonism Relat Disord 2009; 15(10): 772–775. Dostupné z DOI<http://dx.doi.org/10.1016/j.parkreldis.2009.01.010>.

7. Dušek P, Růžička E. Neurologická forma Wilsonovy nemoci. Postgraduální medicína 2011; 13(5): 472–478.

8. Bruha R, Marecek Z, Pospisilova L et al. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int 2011; 31(1): 83–91. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1478–3231.2010.02354.x>.

9. Azizi E, Eshel G, Aladjem M. Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease. Eur J Pediatr 1989; 148(6): 548–549.

10. Menerey KA, Eider W, Brewer GJ et al. The arthropathy of Wilson’s disease: clinical and pathologic features. J Rheumatol 1988; 15(2): 331–337.

11. Saatci I, Topcu M, Baltaoglu FF et al. Cranial MR findings in Wilson‘s disease. Acta Radiol 1997; 38(2): 250–258.

12. Holscher S, Leinweber B, Hefter H et al. Evaluation of the symptomatic treatment of residual neurological symptoms in Wilson disease. Eur Neurol 2010; 64(2): 83–87. Dostupné z DOI: <http://dx.doi.org/10.1159/000316066>.

13. Weiss KH, Gotthardt DN, Klemm D et al. Zinc Monotherapy Is Not as Effective as Chelating Agents in Treatment of Wilson‘s Disease. Gastroenterology 2011; 140(4): 1189–1198. Dostupné z DOI: <http://dx.doi.org/10.1053/j.gastro.2010.12.034>.

14. Gromadzka G, Schmidt HH, Genschel J et al. p. H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson‘s disease. Mov Disord 2006; 21(2): 245–248.