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Updated: Jan 16, 2026

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一种罕见的异常激进的遗传性转基因氨基化症形式
Jingwen Zhang1, Lori R Roth1, Isabel Wees1
1Division of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
一种罕见的遗传性转基因氨基粉症 (ATTRv) 变体,p.Phe84Ser,可以引起早期发作的中枢神经系统和胃肠道症状. 这一案例凸显了基因测试对于诊断罕见的ATTRv呈现的重要性.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
背景情况:
- 遗传性转基因氨基粉症 (ATTRv) 通常表现为神经症状,并且比野生型ATTR更早发病.
- 非常早期和高度症状的ATTRv呈现不常见.
研究的目的:
- 描述一种具有早期和严重表型的罕见遗传性转基因氨基粉症病例 (ATTRv).
- 要突出p.Phe84Ser TTR基因变异与中枢神经系统和胃肠道干预的关联.
主要方法:
- 一名21岁的男性患有胃肠道疾病和神经病变,被诊断出患有ATTR.
- 基因测序确定了罕见的TTR p.Phe84Ser变种.
- 头骨和脊柱的MRI显示了勒普托门内尔增强.
主要成果:
- 患者出现了神经缺陷和胃肠道症状.
- TTR基因测序揭示了致病性p.Phe84Ser变种.
- 核磁共振扫描证实了扩散性勒普托门性粉样化症,这是一个极其罕见的发现.
结论:
- 该p.Phe84Ser变体与显著的中枢神经系统和胃肠道表现有关.
- 根据基因型-表型的理解,对vutrisiran和tafamidis进行了早期诊断和治疗.
- 这一案例强调了ATTRv呈现的变异性和家族史的重要性.
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