容易被误诊的X链 adrenoleukodystrophy可能是错误的
Qiu-Hong Wang1,2, Yang-Yang Wang1, Jing Wang1
1Senior Department of Pediatrics, the Seventh Medical Center of Chinese PLA General Hospital, Beijing, 100010, China.
Italian journal of pediatrics
|July 3, 2024
概括
早期遗传检测对于X链接上腺核缩症 (X-ALD) 呈现为阿迪森病至关重要,防止误诊并使及时治疗成为可能. 感染可以加速X-ALD患者的神经症状.
科学领域:
- 内分泌学和遗传学 在内分泌学和遗传学
- 神经学和代谢障碍 神经学和代谢障碍
背景情况:
- 艾迪逊病通常是基于色素症状来诊断的.
- 只有上腺功能不全 (只有阿迪森功能不全) 的X关联上腺功能衰竭 (X-ALD) 可以被忽视.
- 延迟诊断X-ALD (只有阿迪森氏症) 会导致错过早期干预的机会.
研究的目的:
- 要突出区分X-ALD (只有阿迪森) 和阿迪森病的重要性.
- 报告两例最初被诊断为阿迪森病的病例,后来被诊断为X-ALD.
- 强调基因检测在早期X-ALD诊断中的作用.
主要方法:
- 对X-ALD患者的回顾性分析.
- 收集临床,实验室和成像数据.
- 用于分子遗传分析的全外体测序.
主要成果:
- 最初被诊断为阿迪森病的两名患者表现出上腺皮质激素和色素的升高.
- 两位患者在感染后迅速发展出神经症状,MRI显示出脱髓化病变.
- 基因检测发现了新的ABCD1基因变异,证实X-ALD进展到儿童大脑上腺核病变 (CCALD);感染加剧了症状.
结论:
- 仅仅基于上腺功能不充分的症状对阿迪森病的临床诊断是不够的;考虑ABCD1变异.
- 及时的基因检测对于早期X-ALD (仅艾迪森) 识别至关重要,使得监测和治疗成为可能.
- 感染是CCALD中脱髓化的触发因素,需要保护免受环境因素的影响以减缓疾病的进展.
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