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01 August 2003

Results of treatment of Wilson’s disease – own observations

Irena Jabłońska-Kaszewska, Anna Drobińska-Jurowiecka, Ewa Dąbrowska, Hanna Trocha

Med Sci Monit 2003; 9(3): 9-14 :: ID: 428588


Background: Causative treatment of genetically determined Wilson’s disease (WD) has been impossible so far, although gene therapy could be real in the future. Nowadays the principle of treatment is the elimination of the excess of easily mobilized copper, bound by chelating agents, the most important of which is d-penicillamine, through the kidneys. Blocking of the intestinal absorption of copper by administration of zinc preparations, which additionally induce hepatic metallothionein synthesis, is also possible. The aim of our study was to present own observations and results of treatment of Wilson’s disease. Material/Methods:During the last 16 years, we have observed 33 patients aged 13- 60 (mean age 27 years) with various forms of WD. The study group consisted of 11 females and 21 males, admitted to the Clinic or seen at the Specialist Outpatient Department of Hepatology with various diagnoses. In addition to standard laboratory tests,the levels of ceruloplasmin, serum and urine copper, as well as the activity of some hepatic enzymes, proteins and HBV/HCV infection markers were determined. The patients were also examined by a neurologist and an ophthalmologist, with psychiatric consultation if necessary. Taking into account the overall clinical presentation, the patients were divided into the following groups according to the form of the disease: fulminant, acute, hepatic, hepatic with neurological and psychiatric symptoms, neuropsychiatric, asymptomatic. Results: All the patients were initially treated with d-penicillamine. In most of them, no side effects were observed. The treatment was continued according to the levels of copper excreted with urine (for 10 years at the longest). After obtaining clinical improvement with reduced amount of copper excreted with 24-h urine, we tapered d-penicillamine doses or even discontinued the drug, introducing zinc preparations. In asymptomatic carriers, zinc preparations were used throughout the period of treatment. Conclusions:Early institution of chelation treatment is associated with good prognosis both in hepatic and neurological forms of WD. Zinc preparations are effective and safe in neurological and oligosymptomatic forms of the disease.

Keywords: Wilson’s disease, treatment, own observations

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750