TK2缺陷的临床和分子谱:一个大型的巴西队列
Cristiane Araujo Martins Moreno1,2, Mariana Cunha Artilheiro3, Alulin Tacio Quadros Santos Monteiro Fonseca3,4
1Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. cristianeammoreno@gmail.com.
Scientific reports
|March 16, 2025
概括
早期诊断提米丁激酶2缺乏 (TK2d) 是至关重要的. 这种渐进的肌肉病需要及时识别,特别是可用的补充疗法,以改变其衰弱的过程.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 乙胺基因酶2缺乏症 (TK2d) 是一种严重的,渐进的肌肉病变,由TK2基因中的双样致病变体引起.
- 不特定的临床发现和疾病修饰补充疗法的潜力强调了早期和准确诊断的必要性.
研究的目的:
- 确定和介绍36名巴西TK2d患者的临床和遗传发现.
- 为了对复发性和新型TK2变异进行基因型-表型相关性.
- 评估核酸替代疗法对疾病进展的影响.
主要方法:
- 临床评估包括运动和呼吸功能评估.
- 基因分析用于识别TK2基因中的致病变体.
- 收集自然史数据,并对包括正在接受治疗的患者进行随访.
主要成果:
- 鉴定了36名巴西TK2d患者的特征,确定了婴儿,儿童和晚期发病的形式.
- 在30%的患者中观察到肌外特征;神经病变和脑病变是显著的临床表现.
- 基因型-表型相关性揭示了变体p.Thr108Met,p.His121Asn,p.Arg183Trp和c.536_538+8del的独特临床表现,还确定了一种新的G91D变体.
结论:
- TK2d是一种高度衰弱和渐进的疾病,在所有形式.
- 早期诊断至关重要,以及时启动治疗,如核酸替代疗法,这可以显著改变疾病的自然史.
- 肌肉外参与是帮助TK2d.的诊断策略的一个关键特征.
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