| 摘要: |
| [摘要]目的：探讨1例初诊轮状病毒肠炎的“无症状甲基丙二酸血症”患儿的临床诊治经验。方法：回顾性分析1例初诊轮状病毒肠炎的无症状甲基丙二酸血症患儿的临床资料，并复习相关文献。结果：患儿于轮状病毒感染后出现难以纠正的代谢性酸中毒、酮尿、过度通气、高血氨，多脏器功能衰竭，完善血串联质谱、尿气相色谱-质谱（GCMS）及基因检测后确诊为甲基丙二酸血症（MUT型），经特殊奶粉喂养、补充左卡尼汀及维生素B12、呼吸机辅助通气、血液净化、ECMO治疗后康复。结论：对于危重症患儿，即使既往无甲基丙二酸血症的可疑家族史及临床症状，也不可轻易排除，一旦出现可疑迹象，需尽早完善相关检查并予以试验性治疗，以期改善预后。 |
| 关键词: 甲基丙二酸血症 轮状病毒 诊断 治疗 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2020.05.007 |
|
| 基金项目: |
|
| Asymptomatic Methylmalonic Acidemia with Initial Diagnosis of Rotavirus Enteritis: A Case Report and Literature Review |
| Wei Xuemei, Lei Min, Deng Jikui |
| (Shenzhen Children’s Hospital, Guangdong Shenzhen 518038, China) |
| Abstract: |
| [Abstract] Objective: To probe into the clinical experience of diagnosis for one child with asymptomatic methylmalonic acidemia (MMA) with initial diagnosis of rotavirus enteritis. Methods: The clinical data of one child diagnosed with asymptomatic MMA with initial diagnosis of rotavirus enteritis were retrospectively analyzed, and the relevant literature were reviewed. Results: The child developed metabolic acidosis, ketonuria, hyperventilation, high blood ammonia, and multiple organ failure after rotavirus infection. After improvement of blood tandem mass spectrometry, urinary gas chromatography-mass spectrometry (GCMS) and gene detection, the diagnosis of methylmalonacidemia (MUT type) was confirmed. The child recovered after feeding with special milk powder, supplementing with levocarnitine and vitamin B12, ventilator assisted ventilation, blood purification and Extracorporeal Membrane Oxygenation (ECMO) treatment. Conclusion: For critically ill children, even if there is no suspicious family history and clinical symptoms of MMA, it cannot be easily ruled out. Once suspicious signs, it is necessary to improve the relevant examination and experimental treatment as soon as possible, so as to improve the prognosis. |
| Key words: methylmalonic acidemia rotavirus diagnosis treatment |
