线粒体细胞病变中的电解质障碍:系统性审查
Daan H H M Viering1, Lars Vermeltfoort1, René J M Bindels1
1Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Journal of the American Society of Nephrology : JASN
|September 7, 2023
概括
线粒体细胞病变经常导致电解质障碍,通常是最初的症状. 这凸显了在患有无法解释的电解质失衡的患者中考虑线粒体疾病的重要性.
科学领域:
- 生物化学和分子生物学
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 是一个遗传学.
背景情况:
- 电解质的再吸收需要大量的能量,因为它依赖于管状细胞中高密度的线粒体.
- 电解质障碍越来越被认为是线粒体细胞病变的主要表现.
- 这些电解质干扰的患病率和机制在很大程度上是未知的.
研究的目的:
- 系统地调查被诊断为线粒体细胞病变的患者的电解质障碍.
- 评估线粒体突变查在电解质失衡的诊断工作中的意义.
主要方法:
- 在PubMed,Embase和Google Scholar的系统文献搜索中,寻找经过遗传确认的线粒体疾病病例,并报告了电解质异常.
- 包括214个病例系列/报告 (362名患者) 和9个观察性研究,不包括其他遗传异常的患者.
- 使用乔安娜·布里格斯研究所的标准进行了包含的研究的质量评估.
主要成果:
- 显著多数 (289/362) 患有线粒体细胞病变的患者经历过电解质障碍,其中38人呈现这些作为主要症状.
- 患者平均表现出1.0至2.4种不同的电解质异常,因基因型而异.
- 线粒体DNA结构变异与更高的电解质干扰发生率有关,其中的机制包括管病变和荷尔蒙/胃肠道问题.
结论:
- 线粒体疾病需要在无法解释的电解质障碍的差异诊断中加以考虑.
- 临床医生应保持对已知线粒体状况的个体潜在的电解质异常的认识.
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