威尔逊病的罕见表现:病例报告

Soban Khan, Zaid Waqar, Haris Majid, Ahmed Farhan, Shajee Siddique
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引用次数: 0

摘要

威尔森氏病是由 ATP7B 基因的常染色体隐性突变引起的,这种突变会导致体内作为铜转运体的脑磷脂蛋白形成减少。由于缺乏这种蛋白,铜在肝脏和大脑等器官系统中积聚,导致各种临床异常,但在运动障碍的年轻患者中通常表现为肝功能异常和/或肝硬化。在这里,我们介绍了一个病例,该病例在没有任何感染、药物滥用或代谢异常的情况下出现低血糖和低体温。他后来被诊断为威尔逊病。威尔逊病通常被认为是肝脏/神经系统疾病。与此相反,威尔逊氏病是一种多系统疾病,影响多个器官系统,包括肾脏、内分泌系统和肌肉骨骼系统,并可出现上述系统的表现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare presentation of Wilson disease: a case report
Wilson Disease results from autosomal recessive mutation in ATP7B gene which leads to reduced formation of ceruloplasmin protein in the body that acts as a copper transporter. Due to its deficiency, there is the build-up of copper in the liver and brain among other organ systems and it leads to the development of various clinical abnormalities but commonly presents either as hepatic dysfunction and/or cirrhosis in young patients with movement disorder. Here we present a case that presented with hypoglycemia and hypothermia in absence of any infection, drug abuse or metabolic abnormality. He was later diagnosed as Wilson disease. Wilson Disease is mostly thought of hepatic /neurological disease. Contrary to this Wilson’s disease is a multisystem disease affecting multiple organ system including, kidneys, endocrine system and musculoskeletal system and can present with manifestations of above-mentioned systems.
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