血管并发症和基于成像的心血管风险评估在粘多糖症:一个系统的审查
Eamon P McCarron1, Victoria Burgess2, Steven K Rogers3
1Adult Inherited Metabolic Diseases, Salford Care Organisation, Northern Care Alliance NHS Foundation Trust, Stott Lane, Salford, UK; Adult Inherited Metabolic Disorders, Northern General Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, England, UK; Faculty of Health, University of Sheffield, Sheffield, UK.
Molecular genetics and metabolism
|November 30, 2025
概括
粘多糖粉症 (MPS) 导致早期动脉硬和门疾病. 像CIMT这样的血管成像对于MPS患者的风险评估至关重要,当传统工具失败时.
科学领域:
- 心血管医学 心血管医学
- 罕见疾病是一种罕见的疾病.
- 溶酶体储存障碍 溶酶体储存障碍
背景情况:
- 粘多糖症 (MPS) 是一种溶酶体储存障碍,由于糖氨基甘油 (GAG) 积累而导致渐进的多系统性疾病.
- 心血管并发症,包括动脉硬和门功能障碍,是MPS患者发病率和死亡率的主要原因.
- 传统的心血管风险评估工具在MPS患者中不可靠,血管成像的作用还不清楚.
研究的目的:
- 系统地审查儿科和成人MPS患者的血管并发症.
- 评估心动脉内心介质厚度 (CIMT) 和功能性血管参数,用于MPS中心血管风险分层.
- 评估高级血管成像在管理MPS相关心血管风险方面的有用性.
主要方法:
- 在MEDLINE,EMBASE和Cochrane图书馆 (创立至2025年7月) 的系统文献搜索.
- 包括的研究报告了MPS类型I,II,III,IV,VI或VII的血管结果,使用成像或功能测量.
- 在观察性研究中使用ROBINS-I和随机试验中使用ROB 2.0评估偏差风险.
主要成果:
- 包括224名患者的8项研究,显示MPS亚型中CIMT持续增加,儿童时期的成人值.
- 患有MPS的患者表现出降低了动脉合规性,增加了动脉硬性,以及高发病率的甲状腺和大动脉膜疾病.
- 酶替代疗法 (ERT) 和造血干细胞移植 (HSCT) 证明了血管病理的部分减弱.
结论:
- 冠状动脉内膜介质厚度 (CIMT) 和血管硬是MPS中亚临床血管病变的敏感标志物.
- 传统的心血管风险工具在MPS中不可靠,突出了先进的血管成像的需要.
- 标准化血管成像和生物标志物开发对于改善MPS风险分层和长期结果至关重要,特别是在成年人中.
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