肝细胞癌:在接受氧酸盐治疗的患者中,这是一个关键的并发症
Marion Brands1, Chloe de Puyraimond2, Sidney M Gospe3,4
1Pediatric Metabolic Diseases, Amsterdam UMC Locatie AMC, Amsterdam, Netherlands.
Neuropediatrics
|December 22, 2025
概括
对维生素B6依赖性的长期高剂量铁醇-5'-酸盐 (PLP) 治疗可能会导致肝损伤,包括癌症. 仔细的肝脏监测和标准化的PLP配方对于患者的安全至关重要.
科学领域:
- 神经学 神经学
- 生物化学 生物化学
- 儿科 儿科 儿科
背景情况:
- 皮里多克萨尔-5酸 (PLP) 是皮里多克萨尔-5酸氧化酶 (PNPO) 缺乏症的关键治疗方法,这是新生儿性脑病变的罕见原因.
- 虽然通常是安全的,但长期高剂量的PLP可能会导致肝脏毒性,特别是非药品级配方.
研究的目的:
- 在维生素B6依赖性的儿科患者中研究高剂量口服PLP的长期肝安全性.
- 探索潜在的PLP毒性机制和管理策略.
主要方法:
- 四名患有维生素B6依赖性的儿科患者的病例系列,长期接受高剂量口服PLP.
- 在患者中遗传确认PNPO或ALDH7A1缺乏.
- 对肝脏不良事件的监测和控制.
主要成果:
- 四名患者中有三名在经过多年的PLP治疗后发展为肝细胞癌 (HCC).
- 一名患者经历了可逆的严重肝毒性.
- 通过增加服用频率来减少PLP剂量,在两名患者中有效,但不影响控制.
结论:
- 长期的口服PLP治疗引起了人们对维生素B6依赖性的肝安全性的严重担忧.
- 迫切需要标准化的PLP制剂和替代的输送方法.
- 在慢性PLP治疗的患者中,定期进行肝脏监测是必不可少的.
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