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评估婴儿型庞贝病的基因治疗疗效：心脏磁共振成像的心肌固有T1值

Assessing Gene Therapy Efficacy in Infantile-Onset Pompe Disease: Myocardial Native T1 Values of CMR.

作者信息

Wang Wanbing, Zhang Xinghua, Lyu Jinhao, Yan Fei, Lou Xin

机构信息

Department of Radiology, Chinese PLA General Hospital, Beijing, China.

出版信息

JACC Case Rep. 2024 Aug 21;29(16):102446. doi: 10.1016/j.jaccas.2024.102446.

DOI:10.1016/j.jaccas.2024.102446
PMID:39295808
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11405949/
Abstract

We report the novel finding of a widespread reduction in myocardial native T1 values and size of abnormal regions following gene therapy in a pediatric patient with infantile-onset Pompe disease. We emphasize the importance of serial cardiac magnetic resonance in assessing the efficacy of gene therapy and monitoring myocardial alterations in Pompe disease.

摘要

我们报告了一项新发现，在一名患有婴儿型庞贝病的儿科患者接受基因治疗后，心肌固有T1值普遍降低，异常区域大小减小。我们强调了连续心脏磁共振成像在评估基因治疗疗效和监测庞贝病心肌改变方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90d5/11405949/d420431f1ba9/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90d5/11405949/4483756640c2/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90d5/11405949/d420431f1ba9/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90d5/11405949/4483756640c2/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90d5/11405949/d420431f1ba9/gr1.jpg

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Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review.婴儿型庞贝病治疗方案的最新进展：一篇全面的叙述性综述
Clin Med Insights Pediatr. 2025 Aug 11;19:11795565251337900. doi: 10.1177/11795565251337900. eCollection 2025.

本文引用的文献

1
Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing.婴儿期起病庞贝病：一例强调遗传咨询和产前检测作用的病例报告。
BMC Pediatr. 2024 Mar 18;24(1):194. doi: 10.1186/s12887-024-04690-6.
2
Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.肌肉靶向 AAV 基因治疗治疗婴儿期发病庞贝病的大鼠模型。
Mol Metab. 2024 Mar;81:101899. doi: 10.1016/j.molmet.2024.101899. Epub 2024 Feb 10.
3
Progression of Myocardial Fibrosis in Hypertrophic Cardiomyopathy: A Cardiac Magnetic Resonance Study.
肥厚型心肌病中心肌纤维化的进展：一项心脏磁共振研究。
JACC Cardiovasc Imaging. 2021 May;14(5):947-958. doi: 10.1016/j.jcmg.2020.09.037. Epub 2020 Nov 25.