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在土耳其队列中酸血症的临床和实验室特征

Halil Tuna Akar¹, Ayça Burcu Kahraman¹, Yılmaz Yıldız¹

¹Pediatric Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.

Journal of pediatric endocrinology & metabolism : JPEM

|February 15, 2025

概括

propionic acidemia (PA) 是一种严重的遗传性疾病. 这项研究强调了其复杂的临床特征,代谢异常和高死亡率,强调需要继续研究和改进管理策略.

科学领域:

生物化学生物化学
遗传学遗传学是一个
儿科儿科儿科

背景情况:

propionic acidemia (PA) 是一种自体递归性疾病,源于 propionyl-CoA 炭酶缺乏,影响 PCCA 和 PCCB 基因.
肺炎是一种多系统代谢障碍,具有显著的发病率和死亡率.

研究的目的:

介绍酸血病患者的临床和实验室特征.
分析人口,临床和实验室特征,诊断和治疗方法以及PA患者队列中的结果.

主要方法:

在1984年至2020年期间诊断的50名PA患者的回顾性审查.
从患者记录中分析人口统计,临床,实验室,诊断和治疗数据.

主要成果:

诊断时的队列中位数年龄为18天;91.1%是按期分娩. 血缘关系是很高的 (91.1%).
显著的代谢异常包括低的自由卡尼丁和高的C3 propionyl 卡尼丁. 发育迟缓/智力障碍影响了23名患者. 在9/25名患者的MRI上观察到白质参与和心室扩张.
扩张性心肌病发生在26%的评估患者中. 死亡率为46%,参数和存活率之间没有明确的相关性.

结论:

尽管取得了进展,但酸血仍然是一种严重的疾病,具有显著的长期并发症.
这项综合性评估为PA的多面性提供了关键的见解,为未来的临床管理和研究提供了信息.

关键词:

代谢过程中的先天性错误.有机学术界有机学术界的学术界的学术界.

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