重新定义α-甲基-CoA赛马酶 (AMACR) 缺乏症的表型
Femke C C Klouwer1, Stefan D Roosendaal2, Carla E M Hollak3
1Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Leukodystrophy Center, Amsterdam, The Netherlands. f.c.klouwer@amsterdamumc.nl.
Orphanet journal of rare diseases
|September 24, 2024
概括
阿尔法-甲基-CoA赛马酶 (AMACR) 缺乏症是一种罕见的遗传性疾病. 这项研究强调了其成人发病的神经和视觉症状,包括视网膜炎和认知衰退,并指出肝病风险.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 神经学 神经学
- 眼科医生 眼科 眼科
背景情况:
- 阿尔法-甲基-CoA赛马酶 (AMACR) 缺乏症是一种罕见的过氧体性疾病.
- 它是由AMACR基因中的双变异引起的,导致有毒胆汁酸的积累.
- 由于患者数据有限,人们对表型和自然史的了解很少.
研究的目的:
- 描述AMACR缺陷的临床表型和自然史.
- 在AMACR基因中识别新型致病变体.
- 描述诊断延迟和相关并发症.
主要方法:
- 对12名遗传确认的AMACR缺乏症患者队列的回顾性分析.
- 临床随访时间平均为6年 (2015-2023年).
- 基因分析以确定新型变异,并审查临床表现,神经成像和肝功能的医疗记录.
主要成果:
- 包括9名成人和3名儿童,诊断年龄中位数为56岁.
- 成年人经常出现视网膜色素炎 (RP),后来出现神经问题 (神经病变,无氧,认知能力下降).
- 在成年人中观察到明显的MRI模式;儿童显示单独的肝酶升高. 在成年人中观察到肝细胞癌和胆结石.
结论:
- 艾玛克缺乏症是一种缓慢进展的成人发病障碍,具有突出的神经和视觉现象型.
- 关键特征包括RP,神经病变,心力衰竭和认知衰退,有可能发生类似中风的发作.
- 典型的MRI发现有助于诊断,由于纤维化和癌症的风险,肝病监测至关重要.
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