Hua Daiping, Xuan Qiaoyu, Sun Lanting, Song Wei, Yang Wenming, Wang Han
Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Information Center, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Front Endocrinol (Lausanne). 2025 Aug 21;16:1642083. doi: 10.3389/fendo.2025.1642083. eCollection 2025.
Wilson disease (WD), an inherited copper metabolism disorder, is linked to hepatic injury from copper accumulation-induced dyslipidemia. Children with WD have a high incidence of dyslipidemia, yet personalized risk assessment tools are lacking. This study established a predictive nomogram to provide foundational evidence for early detection in this population.
In this retrospective cohort study, clinical data from 913 children with WD were retrospectively collected at the First Affiliated Hospital of Anhui University of Chinese Medicine (November 2018-February 2025). The cohort was stratified by age group and dyslipidemic status using stratified random sampling, resulting in a division into a training set (70%, = 641) and a validation set (30%, = 272). Independent risk factors were identified using least absolute shrinkage and selection operator (LASSO) regression and multivariate logistic regression analyses. The nomogram prediction model was constructed and validated internally. The model's discriminatory efficacy was evaluated using Receiver Operating Characteristic (ROC) curves with the area under the curve (AUC), while its calibration performance was assessed using calibration curves and the Hosmer-Lemeshow test. Furthermore, the clinical utility of the model was examined through decision curve analysis and clinical impact curves.
The prevalence of dyslipidemia was 68.24%. The nomogram incorporated six significant clinical variables: age group (≥ 10 years vs. < 10 years), alanine aminotransferase (ALT), gamma-glutamyl transpeptidase (GGT), homocysteine (Hcy), superoxide dismutase (SOD), and platelet count (PLT). The prediction model demonstrated good discrimination (AUC: 0.810 in the training set, 0.831 in the validation set), excellent calibration (Hosmer-Lemeshow > 0.280), and significant clinical utility.
Children with WD exhibit a high incidence of dyslipidemia. The nomogram prediction model based on these six variables effectively predicts dyslipidemic risk in pediatric WD patients, enabling early identification and clinical risk stratification.
威尔逊病(WD)是一种遗传性铜代谢紊乱疾病,与铜蓄积诱导的血脂异常所致肝损伤有关。WD患儿血脂异常发生率较高,但缺乏个性化的风险评估工具。本研究建立了一个预测列线图,为该人群的早期检测提供基础证据。
在这项回顾性队列研究中,于安徽中医药大学第一附属医院(2018年11月至2025年2月)回顾性收集了913例WD患儿的临床资料。采用分层随机抽样按年龄组和血脂异常状态对队列进行分层,分为训练集(70%,n = 641)和验证集(30%,n = 272)。使用最小绝对收缩和选择算子(LASSO)回归及多因素逻辑回归分析确定独立危险因素。构建列线图预测模型并进行内部验证。使用受试者工作特征(ROC)曲线及曲线下面积(AUC)评估模型的鉴别效能,使用校准曲线和Hosmer-Lemeshow检验评估其校准性能。此外,通过决策曲线分析和临床影响曲线检验模型的临床实用性。
血脂异常患病率为68.24%。列线图纳入了六个重要临床变量:年龄组(≥10岁与<10岁)、丙氨酸氨基转移酶(ALT)、γ-谷氨酰转肽酶(GGT)、同型半胱氨酸(Hcy)、超氧化物歧化酶(SOD)和血小板计数(PLT)。预测模型显示出良好的鉴别能力(训练集中AUC为0.810,验证集中为0.831)、出色的校准(Hosmer-Lemeshow>0.280)及显著的临床实用性。
WD患儿血脂异常发生率较高。基于这六个变量的列线图预测模型能有效预测儿童WD患者的血脂异常风险,有助于早期识别和临床风险分层。