红色素质原症的病理诊断中的挑战:一个病例报告
Tingting Yang1, Changxian Chen1, Chunming Li1
1Department of Pathology, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Frontiers in medicine
|October 13, 2025
概括
由于非典型的肝脏表现,对EPP的诊断具有挑战性. 这一案例强调了极化光显微镜和基因测试对于准确的EPP鉴定的重要性.
科学领域:
- 肝病学 肝病学是一种肝病学.
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 染色体原形性皮质症 (EPP) 是一种罕见的自体逆向性疾病.
- 由FECH基因突变引起,导致铁甲酸酶缺乏和原氨酸积累.
- 肝损伤的EPP具有非典型的组织病理特征,使诊断复杂化.
研究的目的:
- 报告一个具有挑战性诊断的EPP病例.
- 突出EPB中特定诊断方法的实用性.
- 为了解人民党的罕见表现作出贡献.
主要方法:
- 临床病例的介绍.
- 用偏光显微镜进行肝脏活检.
- 对FECH基因突变进行基因检测.
主要成果:
- 一名29岁的男性出现腹痛和黄,最初怀疑是自身免疫性肝炎.
- 肝脏活检显示在极化光下具有红色双反射的特征EPP沉积物.
- 基因检测显示FECH基因中存在一种新的突变 (c.804+1del);该患者还患有吉尔伯特综合征.
结论:
- 对于EPP诊断,需要整合临床,组织病理学和遗传学发现.
- 极化光显微镜对于识别EPP的病理学特征至关重要.
- 早期遗传测试有助于及时诊断和管理EPP.
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