CAJ | 학술논문

目的：提高对极长链酰基辅酶A脱氢酶缺乏症（VLCADD）临床特征的认识。方法总结1例VLCADD患儿的临床表现、诊断和治疗过程，并综合文献进行分析。结果患儿，女，7个月，表现为频繁发作的呕吐、呕血、双眼凝视，窦性心动过速，低血糖，肝功能及心肌酶异常，最终因症状频繁发作，放弃治疗而死亡。血尿串联质谱分析证实患儿为VLCADD，未行基因检测。结论 VLCADD为婴儿期潜在猝死性疾病之一，需要早期诊断与治疗。
목적：제고대겁장련선기보매A탈경매결핍증（VLCADD）림상특정적인식。방법총결1례VLCADD환인적림상표현、진단화치료과정，병종합문헌진행분석。결과환인，녀，7개월，표현위빈번발작적구토、구혈、쌍안응시，두성심동과속，저혈당，간공능급심기매이상，최종인증상빈번발작，방기치료이사망。혈뇨천련질보분석증실환인위VLCADD，미행기인검측。결론 VLCADD위영인기잠재졸사성질병지일，수요조기진단여치료。
Objective To explore the clinical features of very long chain acyl-CoA dehydrogenase deifciency (VLCADD). Methods The clinical manifestation and the biochemical data of one baby girl with VLCADD were summarized and related literatures were reviewed. Results Female patient, aged 7 months, presented with recurrent vomit, haematemesis, stare, nodal tachycardia, hypoglycemia, abnormal liver function and myocardial enzyme. She died after one month due to frequent relapse together with withdrawing treatment. Conclusion VLCADD as a rare disease that cause sudden unexpected death in infant, the early diagnosis and treatment are important to patients.