凯恩斯-赛尔综合征与范科尼综合征呈现:一个病例报告
Yixiu Lu1, Shan Jian1, Min Qian2
1Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Translational pediatrics
|June 16, 2025
概括
基恩斯-赛尔综合征 (KSS) 是一种线粒体疾病,最初可以在儿童中呈现为Fanconi综合征. 早期识别KSS至关重要,特别是在ptosis等外症状时.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 线粒体疾病 线粒体疾病
背景情况:
- 凯恩斯-赛尔综合征 (KSS) 是一种罕见的线粒体遗传疾病.
- 凯斯斯通常呈现出渐进的外形眼,矮身和心脏导电缺陷.
- 芬科尼综合征是已知的KSS的体现,但很少是最初呈现的特征.
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