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病例报告:扩张性心肌病是晚期出现CblC缺陷的成年人最初的表现
Dongling Xu1, Chi Zhang1, Lin Hao1
1Department of Cardiology, The Second Qilu Hospital of Shandong University, Jinan, Shandong, China.
Frontiers in cardiovascular medicine
|February 9, 2026
概括
晚期发生的可巴胺C (cblC) 缺乏,一种代谢障碍,在一名27岁的女性中异常表现为心脏和脏问题. 这一案例突出了复杂的临床过程和cblC疾病的扩大谱.
科学领域:
- 生物化学 生化学
- 遗传学 是一个遗传学.
- 内部医学 内部医学
背景情况:
- 哥巴胺C (cblC) 缺乏是维生素B12代谢中最常见的遗传性疾病.
- *MMACHC*基因中的致病变异会导致cblC缺乏,导致甲基马龙酸性尿和同胞性尿.
- 晚期出现的cblC缺乏症不太常见,并且可以有不同的临床表现.
研究的目的:
- 报告一种罕见的晚发性cblC缺乏病例,表现为扩张性心肌病和功能不全.
- 为了突出这一患者的遗传基础和生化发现.
- 讨论临床过程和管理晚发性cblC疾病的挑战.
主要方法:
- 一个27岁的中国妇女的案例报告.
- 生物化学分析包括血液氨基酸和甲酸的分析.
- 基因检测用于识别MMACHC*基因中的致病变体.
主要成果:
- 这位患者出现了扩张性心肌病和功能衰竭.
- 生物化学分析显示,乙烯基卡尼丁 (C3) 的比率较高.
- 基因检测显示了MMACHC* (c.80A>G和c.609G>A) 中的复合异构菌致病变体,证实了cblC缺乏.
- 尽管接受了维生素B12和贝他因治疗,但心脏功能没有得到改善.
结论:
- 这种情况扩大了已知的晚发性cblC疾病的现象谱.
- 具有挑战性的临床过程,由COVID-19复杂化,强调了这种代谢状况的严重性.
- 早期诊断和管理至关重要,尽管结果可能会变化.
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