References 1. European Association for the Study of the Liver: EASL clinical practice guidelines: Wilson’s disease. J Hepatol. 2012;56:671-85. 2. Delangle P, Mintz E.Chelation therapy in Wilson’s disease: from D-penicillamine to the design of selective bioinspired intracellular Cu(I) chelators. DaltonTrans. 2012;41(21):6359-70. doi: 10.1039/c2dt12188c 3. Sözeri E, Feist D, Ruder H, Schärer K. Proteinuria and other renal functions in Wilson’s disease. Pediatr Nephrol. 1997;11(3):307-11. PMID:9203178
Anna D. Kostadinova, Marian Y. Mihaylov, Irena D. Ivanova and Rayna T. Robeva
I. Dimitrova Ivanova, B. Atanasova, S. Dragneva, L. Vladimirova, Z. Krastev, A. Kostadinova, A. Ivanova and K. Tzatchev
monitoring of therapy with D-penicillamine in patients with Wilson disease.- Biochem Med, 2013, 23(1), A1-A55. 8. Lauwerys, R., Amery, A., Bernard, A. et al. Health effects of environmental exposure to cadmium: objectives, design and organization of the Cadmibel Study: a cross-sectional morbidity study carried out in Belgium from 1985 to 1989.- Environ Health Perspect, 1990, 87, 283-9. 9. Lippi, G., Banfi , G., Church, S. et al. Preanalytical quality improvement. In pursuit of harmony, on behalf of European Federation for Clinical Chemistry
Martin Popević, Gordana Kisić, Milenko Đukić and Petar Bulat
Work Ability Assessment in a Patient with Wilson's Disease
Wilson's disease (WD) is a rare, progressive autosomal recessive disorder characterised by impaired transport and excessive accumulation of copper in the liver, brain, and other tissues. The disease is diagnosed based on clinical manifestations and screening tests results. Work ability assessment of patients with WD is based on the analysis of liver, kidney, neurological, and cognitive impairments, and takes into account patient's level of education.
This article presents a case with a 48-year-old male patient, who was admitted for work ability assessment due to polymorphic symptoms. The patient had been working as a salesman for 28 years. A detailed interview and examination by occupational health and other medical specialists revealed that the patient had been suffering from Wilson's disease from the age of 13, and had now developed hepatic manifestations (compensated liver cirrhosis with portal hypertension), neurological manifestations (dystonia, dysarthria, muscle weakness, vertigo), and psychiatric manifestations (depression, insomnia, cognitive impairment) of the disease, including problems partially caused by long-lasting treatment with copper chelating agents (neurological and haematological manifestations). There were no ocular manifestations of Wilson's disease (Kayser-Fleischer rings or sunflower cataract).
The patient was assessed as having drastically diminished general work ability, dominantly due to neurological and psychiatric impairments caused by Wilson's disease.
Irina Predescu, Dragos Predescu, Codrut Sarafoleanu and Silviu Constantinoiu
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Lourdes A. Vega Rasgado, Guillermo Ceballos Reyes and Fernando Vega Díaz
in the mouse retina, Eur. J. Neurosci. 27 (2008) 2177–2187; https://doi.org/10.1111/j.1460-9568.2008.06175.x 10. M. Qume and L. J. Fowler, Effect of chronic treatment with the GABA transaminase inhibitors g-vinyl GABA and ethanolamine O-sulphate on the in vitro GABA release from rat hippocampus, Br. J. Pharmacol. 122 (1997) 539–545; https://doi.org/10.1038/sj.bjp.0701383 11. N. Rahimi, M. Sadeghzadeh, M. Javadi-Paydar, M. R. Heidary, F. Jazaeri and A. R. Dehpour, Effects of D-penicillamine on pentylenetetrazole-induced seizures in mice
JeongWoo Kang, Md Akil Hossain, Byungkook Choi, Joon-Hyoung Cho, Seok-Jin Kang, Hyun-Ok Ku, Sang-Hee Jeong and Hwan-Goo Kang
Mol Pathol 2013 94 188 194 9 Jensen H.S., Mogensen H.H., Kjaersgaard E.: Blood monocyte elastolytic activity enhanced by immune complex stimulation in patients with rheumatoid arthritis and normal controls. Effect of aurothiomalate or D-penicillamine. Scand J Rheumatol 1989, 18, 297–305. 10.3109/03009748909095033 Jensen H.S. Mogensen H.H. Kjaersgaard E. Blood monocyte elastolytic activity enhanced by immune complex stimulation in patients with rheumatoid arthritis and normal controls. Effect of aurothiomalate or D-penicillamine Scand J Rheumatol 1989 18 297 305
Tamer Mahmoud Tamer
induced by ascorbate plus cupric ions. Testing of bucillamine and its SA981- metabolite as antioxidants. J Pharma & Biomedical Analysis 56 : 664-670. Valachova K, Hrabarova E, Drafi F, Juranek I, Bauerova K, Priesolova E, Nagy M, Šoltes L. (2010a). Ascorbate and Cu(II) induced oxidative degradation of high-molar-mass hyaluronan. Pro- and antioxidative eff ects of some thiols. Neuroendocrinol Lett 31 (2): 101-104. Valachova K, Hrabarova E, Gemeiner P, Šoltes L. (2008). Study of pro- and anti-oxidative properties of d-penicillamine in a
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