Department of Internal Medicine and Clinical Pharmacology, Medical University of Silesia, Katowice, Poland.
Yale J Biol Med. 2012 Jun;85(2):249-54. Epub 2012 Jun 25.
Wilson's disease is a rare genetic disorder of copper metabolism. The difference in copper tissue accumulation is responsible for the various clinical manifestations of this disorder. If left untreated, Wilson's disease progresses to hepatic failure, severe neurological disability, and even death. Due to the complex clinical picture of Wilson's disease, its diagnosis relies on a high index of suspicion. In our paper, we present endocrine symptoms suggesting the presence of insulinoma and hyperprolactinemia as the initial clinical manifestation of Wilson's disease in a young female. Zinc acetate treatment resulted in the disappearance of hypoglycemia, galactorrhea, and menstrual abnormalities.
威尔逊病是一种罕见的铜代谢遗传疾病。铜在组织中的蓄积差异导致了这种疾病的各种临床表现。如果不治疗,威尔逊病会进展为肝衰竭、严重的神经功能障碍,甚至死亡。由于威尔逊病的临床表现复杂,其诊断依赖于高度怀疑。在我们的论文中,我们提出了内分泌症状,提示存在胰岛素瘤和高泌乳素血症,这是年轻女性威尔逊病的初始临床表现。醋酸锌治疗导致低血糖、溢乳和月经异常消失。