Nehaj František, Kubašková Marianna, Mokáň Michal, Sokol Juraj, Nosáľ Vladimír, Zeleňák Kamil, Mokáň Marián
Vnitr Lek. 2018 Winter;63(12):980-986.
Wilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13th 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.
威尔逊病（WD）属于常染色体隐性遗传代谢紊乱疾病，其基因突变的ATP7B位于第13号染色体上。ATP酶在WD中起重要作用。它促进铜排泄到胆汁中。该基因负责脱辅基铜蓝蛋白的修饰。在这种疾病中，它导致机体铜释放不足以及铜在肝脏、大脑等器官中积累，进而可能导致某个器官功能障碍。根据具体症状，我们可将WD分为精神型、神经型或肝型。WD通常在15至25岁之间发病。肝型往往发病较早，相反，神经型通常在后期发病。我们报告一例45岁女性WD非典型病史的病例，其诊断过程非常漫长且具有跨学科特点。关键词：脑 - 铜 - 诊断 - 遗传学 - 肝脏 - 熊猫 - 威尔逊病
