1例以极重度高甘油三酯血症为表现的极长链酰基辅酶A脱氢酶缺乏症报告

A case of very long chain acyl-CoA dehydrogenase deficiency characterized by extremely severe hypertriglyceridemia

目的加强对极长链酰基辅酶A脱氢酶缺乏症(VLCADD)临床特征的认识,以提高检出率及改善预后。方法总结1例VLCADD患儿的临床表现、诊断和治疗过程,并文献复习。结果患儿,男,7月,表现为间断性发热、咳嗽,低血糖,肝功能、心肌酶异常及极重度高甘油三酯血症。最终因多器官功能衰竭死亡。基因检测及串联质谱检测结果诊断为VLCADD。结论VLCADD为婴儿期猝死性疾病常见原因之一,极重度高甘油三酯血症可能是引起患儿病情恶化的重要原因,部分肝型重型患儿起病早且危重,可因感染诱发,发展迅速且病死率高。临床上应提高对VLCADD的认识,早诊断,早治疗。

Objective To improve the understanding of the clinical features of very long chain acyl-CoA dehydrogenase deficiency(VLCADD),so as to improve the detection rate and prognosis.Methods The clinical manifestations,diagnosis and treatment process of a child with VLCADD were summarized,and review the literature.Results The child,male,7months,showed intermittent fever,cough,hypoglycemia,abnormal liver function,myocardial enzymes and extremely severe hypertriglyceridemia.Eventually died of multiple organ failure.The results of gene detection and tandem mass spectrometry were diagnosed as VLCADD.Conclusion VLCADD is one of the common causes of sudden death in infancy,and extremely severe hypertriglyceridemia may be an important cause of deterioration of the disease.Some severe children with liver type start early and critical,can be induced by infection,develop rapidly and have a high mortality.Clinically,we should improve the understanding of VLCADD,early diagnosis and early treatment.