线粒体疾病患者的内分泌表现和长期结果
Ja Hye Kim1, Dohyung Kim1, Soojin Hwang1
1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Orphanet journal of rare diseases
|May 17, 2025
概括
线粒体疾病通常会导致内分泌问题,如矮身和糖尿病,有时在神经症状出现之前. 在特定的线粒体条件下也观察到乳头甲状腺癌和上腺功能不充分.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
背景情况:
- 内分泌功能障碍经常与线粒体疾病有关.
- 这项研究调查了诊断为线粒体疾病的患者内分泌表现的临床谱和结果.
研究的目的:
- 鉴定基因确认线粒体疾病的患者内分泌表现的临床特征和结果.
- 确定与不同类型的线粒体疾病相关的特定内分泌问题,包括MELAS,皮尔森综合征和凯恩斯-赛尔综合征 (KSS).
主要方法:
- 54名来自47个遗传确认线粒体疾病的家庭的54名患者的临床和内分泌发现的回顾性审查.
- 包括患有线粒体脑筋疲劳症,乳酸和类似中风的发作 (MELAS),皮尔森综合征和凯恩斯-赛尔综合征 (KSS) 的患者.
主要成果:
- 矮身是普遍存在的,影响了44.9%的MELAS患者.
- 在46.9%的MELAS患者中诊断出糖尿病 (DM).
- 乳头甲状腺癌发生在10.2%的MELAS患者中;其他患者群体中发现了甲状腺功能低下,上腺功能不足和严重增长迟缓.
结论:
- 内分泌功能障碍,包括身高矮,肌肉疾病和甲状腺功能低下症,在20%的MELAS患者中可能会出现神经症状.
- 乳头甲状腺癌是MELAS的一个显着的并发症.
- 皮尔森综合征和KSS与严重的生长迟缓和多系统性问题有关,有助于增加死亡率.
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