长期心脏稳定尽管晚期酶替代疗法在Fabry病严重脏干扰的疾病
Thaís Baptista Teixeira1, Murillo Oliveira Antunes2, Ana Paula de Morais Rodrigues Barros1
1Instituto do Coração (InCor), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
JACC. Case reports
|November 28, 2025
概括
对于法布里病 (FD) 的酶替代疗法,即使在脏损伤后晚开始,也可以保持心脏功能. 早期诊断和查对于管理这种罕见的遗传疾病至关重要.
科学领域:
- 遗传学和罕见疾病.
- 溶酶体储存障碍 溶酶体储存障碍
- 心血管医学 心血管医学
背景情况:
- 费布里病 (FD) 是一种X链 lysosomal储存障碍.
- 多系统性参与是FD的特征,心脏病显著影响预后.
研究的目的:
- 为了说明法布里病中脏和心脏并发症之间的时间关系.
- 评估酶替代疗法 (ERT) 对患有FD的患者心脏功能的长期影响,该疗法是在确定的病后开始的.
主要方法:
- 一名男性患者的病例报告,在9岁时被诊断出FD.
- 在患有功能障碍后,在22岁时开始ERT.
- 连续心脏磁共振成像 (CMR) 在15年内进行,以评估心脏结构和功能.
主要成果:
- 患者患有末期病,需要进行移植.
- 尽管ERT启动延迟了,但连续CMR显示左心室维度保持,喷射分数保持,并且15年来没有心肌纤维化.
- 这表明,尽管脏疾病已晚期,但心脏稳定性持续.
结论:
- 在FD中晚期启动ERT可能会防止心脏参与,如果在心肌损伤发生之前进行.
- ERT不能逆转已有的脏恶化.
- 强调及时诊断和全面的器官查在管理法布里病的关键重要性.
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