| 沈嘉琳,俞敏,朱诗瑞,等.肉碱 -酰基肉碱转位酶缺乏症 1例并文献复习[J].安徽医药,2026,30(5):1029-1032. |
| 肉碱 -酰基肉碱转位酶缺乏症 1例并文献复习 |
| Carnitine-acylcarnitine translocase deficiency: a case report and literature review |
| |
| DOI：10.3969/j.issn.1009-6469.2026.05.036 |
| 中文关键词: 肉碱 -酰基肉碱转位酶缺乏症 SLC25A20基因 c.199-10T>G 长链酰基肉碱谱 新生儿代谢危象 心肌损害 |
| 英文关键词: Carnitine-acylcarnitine translocase deficiency SLC25A20 c.199-10T>G Long-chain acylcarnitine profile Neonatal metabolic crisis Myocardial injury |
| 基金项目:江苏省妇幼保健科研项目( F202331) |
|
| 摘要点击次数: 225 |
| 全文下载次数: 63 |
| 中文摘要: |
| 目的探讨肉碱 -酰基肉碱转位酶缺乏症( CACTD)的临床特征、生化标志及基因突变谱系，重点分析亚洲人群高频致病突变 c.199-10T>G的分子机制、临床特征及治疗进展。方法回顾性分析南京医科大学附属泰州人民医院新生儿科 2024年 11月 18日收治的 1例经全外显子测序确诊的 CACTD病儿临床资料。结果(1)病儿为 36周双胎之小，男婴，生后 63 h突发呼吸暂停、抽搐伴严重高氨血症( 2 066.6 μmol/L)特征性心肌损害( QT间期延长、室内传导阻滞)。串联质谱显示长链酰基肉碱谱显著升高［十六碳酰肉碱( C16)18.810 μmol/L，，十八碳烯酰肉碱( C18:1)5.39 μmol/L］伴游离肉碱( C0)6.29 μmol/L降低。采用多模态干预策略:连续性肾脏替代治疗清除毒性代谢物、精氨酸联合左卡尼汀代谢调控、中链甘油三酯配方奶营养支持，病儿 21日龄临床症状缓解出院。(2)基因检测发现 SLC25A20基因内含子区 c.199-10T>G纯合突变，父母均为携带者。该突变导致 mRNA剪接异常，系东亚地区报道的最高频致病突变。结论该研究系统报道 c.199-10T>G突变与急性代谢危象及心肌损害的时序关联性，揭示该突变表型严重性及不良预后特征。对于不明原因的新生儿早期出现呼吸暂停、抽搐，伴心肌损伤者或猝死病例，需高度警惕 CACTD或其他脂肪酸氧化障碍类疾病。推荐 SLC25A20基因 c.199-10T>G作为东亚人群 CACTD首要筛查位点。 |
| 英文摘要: |
| Objective To investigate the clinical characteristics, biochemical markers, and genetic mutation spectrum of carnitine-ac. ylcarnitine translocase deficiency (CACTD), with a focus on the molecular mechanisms, clinical features and therapeutic advances ofthe Asian-prevalent pathogenic variant c. 199-10T>G. Methods A retrospective analysis was conducted on the clinical data of a CACTD-confirmed neonate diagnosed via whole-exome sequencing at the Department of Neonatology, The Affiliated Taizhou People'sHospital of Nanjing Medical University in November 18,2024.Results (1) The male infant was the smaller twin born at 36 weeks' ges. tation, who developed sudden-onset apnea and convulsions at 63 hours of life accompanied by life-threatening hyperammonemia (2 |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |
