propionic 酸血症和甲基马龙酸性尿症:前三年的肖像-入院和并发症
Kimberly A Chapman1, Nicholas Ah Mew2, Nina Mickle2
1Children's National Rare Disease Institute, Children's National Hospital, Washington, DC, USA; Children's Hospital Los Angeles, Los Angeles, CA, USA.
Molecular genetics and metabolism
|November 13, 2025
概括
propionic acidemia (PA) 和 methylmalonic acidemia (MMA) 导致幼儿经常住院治疗,吐是最常见的原因. 了解这些入院模式对于改善对这些罕见的有机酸性尿症的护理和家庭教育至关重要.
科学领域:
- 儿科罕见疾病 儿科罕见疾病
- 代谢障碍 代谢障碍 代谢障碍
- 改善医疗保健的质量.
背景情况:
- 酸血症 (PA) 和甲基酸血症 (MMA) 是有机酸性尿症.
- 这些情况可能会导致代谢酸和高氨血,导致频繁的住院治疗.
- 关于PA和MMA患者在生命的前三年住院的频率和原因的研究有限.
研究的目的:
- 确定PA和MMA患者在生命的前三年内入院的频率和原因.
- 改善对疾病进展的理解,并为临床管理和家庭咨询提供信息.
主要方法:
- 从儿童国家医院的PA和MMA患者 (2000-2024年出生) 的医疗记录中提取回顾性数据.
- 收集的数据包括患者的人口统计数据,呈现时的年龄和入院原因.
- 分析重点集中在生命的前三年或肝移植之前的入院.
主要成果:
- 该队列包括11名患有MMA (所有MMUT突变) 的患者和15名患有PA (PCCA或PCCB突变) 的患者.
- 由于代谢失补偿而入院的平均次数为MMA的4.45±6.6,PA的8.7±6.7.
- 在MMA和PA队伍中,吐是最常见的入院原因,在生命的第一年发生的入院比例很高 (33%为MMA,43%为PA).
结论:
- 患有PA和MMA的患者经常住院,占他们生命前三年的5-6%.
- 这些发现突显出需要对这些罕见疾病有更好的理解和管理策略.
- 这些数据为更新的咨询实践提供了信息,以更好地为预期的临床过程做好家庭准备.
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