一个患有TFAM突变的男孩的肝移植与mtDNA枯竭综合征相关
Jing Zhao1, Lian Chen2, Ni Wang3
1The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China.
Orphanet journal of rare diseases
|December 24, 2024
概括
线粒体转录因子A (TFAM) 缺乏会导致新生儿严重肝衰竭. 肝移植提供了有利的结果,使症状正常化,并确保受影响婴儿的正常发育.
科学领域:
- 遗传学和分子生物学
- 儿科 儿科 儿科
- 肝病学 肝病学是一种肝病学.
背景情况:
- 线粒体转录因子A (TFAM) 缺乏与mtDNA枯竭综合征有关,出现严重的新生儿并发症和不良预后.
- 目前的治疗方法侧重于症状管理,成功程度有限,受影响个体的临床前景普遍不佳.
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