Cai Lin, Huang Xiaotao, Ye Yan, Yang Dailan, Xie Linshen, Fu Daigang, Peng Lijun, Zhou Dingzi, Liao Juan
Department of Gastroenterology, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, China.
Non-communicable Diseases Research Center, West China-PUMC C. C. Chen Institute of Health, Sichuan University, Chengdu, China.
Front Neurol. 2023 Jul 5;14:1176946. doi: 10.3389/fneur.2023.1176946. eCollection 2023.
Wilson's disease (WD) is a recessive genetic disorder characterized by copper metabolism dysfunction. It is difficult to obtain an accurate diagnosis due to its variable clinical presentation. This study aimed to describe the clinical characteristics and diagnostic particularities in a series of Chinese WD patients.
The medical records of 371 patients with WD retrieved from January 2005 to December 2020 were retrospectively reviewed.
The incidence of WD has a male predominance in the adult population. However, the difference in sex distribution is not significant in the pediatric population. Females have an earlier symptom onset than males. The most common initial symptoms were neuropsychiatric manifestations both in the pediatric population (49.7%) and adult population (69.8%), and there was a male predominance (61.8%). Eighty-two percent of patients presented with more than two neurologic symptoms. Fifty-two (14%) patients presented with psychiatric symptoms. The most common WD phenotype was the neuropsychiatric form (48%). The age of onset occurred earlier in patients with the hepatic phenotype than in those with the neuropsychiatric phenotype. Moreover, there was a significant difference in sex distribution regarding phenotype. Females presented with a hepatic phenotype more often than males, and the neuropsychiatric phenotype occurred more frequently in males with an older onset age. Further study showed that the age at onset was a deciding factor for predicting the neuropsychiatric phenotype among the hepatic phenotype. However, sex did not correlate with the phenotype.
Males seem to have a higher disease susceptibility, with symptom onset later than females. Males frequently present with a neuropsychiatric phenotype, while females present with a hepatic phenotype. Age at onset was a deciding factor for predicting the WD phenotype. Further studies focusing on the effect of estrogens on the pathology of WD are suggested.
威尔逊病（WD）是一种以铜代谢功能障碍为特征的隐性遗传疾病。由于其临床表现多样，难以获得准确诊断。本研究旨在描述一系列中国WD患者的临床特征和诊断特点。
回顾性分析2005年1月至2020年12月间检索到的371例WD患者的病历。
WD在成年人群中发病率男性占主导。然而，在儿童人群中性别分布差异不显著。女性症状出现早于男性。儿童人群（49.7%）和成年人群（69.8%）最常见的首发症状均为神经精神表现，且男性占主导（61.8%）。82%的患者出现两种以上神经症状。52例（14%）患者出现精神症状。最常见的WD表型是神经精神型（48%）。肝型患者的发病年龄早于神经精神型患者。此外，表型的性别分布存在显著差异。女性肝型表型比男性更常见，神经精神型表型在发病年龄较大的男性中更频繁出现。进一步研究表明，发病年龄是预测肝型表型中神经精神型的决定性因素。然而，性别与表型无关。
男性似乎疾病易感性更高，症状出现晚于女性。男性常表现为神经精神型表型，而女性表现为肝型表型。发病年龄是预测WD表型的决定性因素。建议进一步开展关于雌激素对WD病理影响的研究。
