威尔逊病在成年晚期发病
Wilson's Disease Presenting in Late Adult Life.
作者信息
AlDhaleei Wafa, AlAhmad Maryam, Alhosani Ibrahim
机构信息
Gastroenterology Department, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates.
出版信息
Case Rep Gastroenterol. 2021 Feb 4;15(1):142-146. doi: 10.1159/000512422. eCollection 2021 Jan-Apr.
Abstract
Wilson's disease (WD) is an autosomal recessive disease affecting the copper metabolism resulting in various clinical presentations. Diagnosis includes the presence of low serum copper and ceruloplasmin concentrations, increased urinary copper excretion, and/or increased hepatic copper concentrations. Yet, genetic testing remains diagnostic. Management includes copper chelating agents and liver transplant in advance cases. We report a case of WD presenting with liver function impairment in late adult life and started on treatment. Therefore, early diagnosis and treatment of WD can prevent related complications.
摘要
威尔逊病（WD）是一种常染色体隐性疾病，影响铜代谢，导致多种临床表现。诊断包括血清铜和铜蓝蛋白浓度降低、尿铜排泄增加和/或肝铜浓度升高。然而，基因检测仍是诊断方法。治疗包括使用铜螯合剂，晚期病例则进行肝移植。我们报告一例在成年后期出现肝功能损害并开始治疗的WD病例。因此，WD的早期诊断和治疗可预防相关并发症。
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