Kolarski V
Vutr Boles. 1987;26(4):49-53.
The author's 25 years experience in clinical, diagnostic, therapeutic and prognostic study of 24 patients with Wilson-Konovalov's disease (hepatilenticular degeneration) is presented. The great diagnostic importance of copper metabolism (plasma copper level, urine copper), plasma ceruloplasmin concentration, histochemical and quantitative determination of copper in liver cells (after a liver biopsy) is pointed out. These are of special importance in young patients (under 25 years) and in children with chronic parenchymal liver disease. In 1/4 of the patients the early stage of the disease resembled chronic active hepatitis (predominantly liver type of the disease). The basic therapeutic drug is D-penicillamine hydrochloride and when it is not tolerated the drug Trien may be used. Very good therapeutic results and considerable improvement of prognosis, social and working rehabilitation of the patients have been achieved. The preconditions for good therapeutic and prognostic results are the early discovery, exact diagnosis and prolonged purposeful pathogenetic treatment (chelatory and hepatoprotective). Zinc sulfate and potassium sulfide are only secondary therapeutic means in patients with hepatolenticular degeneration.
本文介绍了作者对24例威尔逊 - 康诺瓦洛夫病（肝豆状核变性）患者进行临床、诊断、治疗及预后研究的25年经验。指出了铜代谢（血浆铜水平、尿铜）、血浆铜蓝蛋白浓度、肝细胞铜的组织化学及定量测定（肝活检后）在诊断中的重要意义。这些对于年轻患者（25岁以下）及患有慢性实质性肝病的儿童尤为重要。四分之一的患者疾病早期类似慢性活动性肝炎（以肝脏型疾病为主）。基本治疗药物是盐酸青霉胺，若不耐受可使用曲恩汀。已取得了非常好的治疗效果，患者的预后、社会及工作康复情况有了显著改善。良好治疗及预后结果的前提是早期发现、准确诊断及长期有针对性的病因治疗（螯合及保肝）。硫酸锌和硫化钾在肝豆状核变性患者中仅为次要治疗手段。
