极长链酰基辅酶A脱氢酶缺乏症心肌病型1例临床及基因型分析

Clinical and genotypic analysis of 1 case of cardiomyopathy type with long chain acyl-CoA dehydrogenase deficiency

目的探讨极长链酰基辅酶A脱氢酶缺乏症(VLCADD)心肌病型的临床表现、实验室检查、基因型特点以及诊治转归,提高对VACADD心肌病型的认识。方法总结1例VLCADD患儿的临床表现、诊断及治疗过程,并进行基因型分析。结果患儿,男,新生儿遗传代谢病筛查提示VLCADD,给予限制长链脂肪酸(LCF)、补充中链三酰甘油(MCT)的饮食治疗,该患儿2月龄疫苗接种后出现嗜睡、反应差,经抢救无效死亡,临床类型考虑为心肌病型。血基因检测证实为VLCADD,基因型为c.652G>A,c.996dup复合杂合突变,分别来源于父母,其中c.996dup为未报道的新变异,移码变异。结论VLCADD心肌病型患儿起病早且危重,新生儿遗传代谢病筛查可帮助早期筛查及诊断,但可能难以扭转结局。预防接种可能诱发急性发病风险,应充分告知家长。

Objective To investigate the clinical manifestation,laboratory examination,genotype characteristics,diagnosis and treatment outcome of cardiomyopathy type with very long chain acyl-CoA dehydrogenase deficiency(VLCADD-C),and to improve the understanding about VLCADD-C.Methods To summarize the clinical manifestations,diagnosis and treatment process of a child with VLCADD,and perform genotype analysis.Results The child,male,was diagnosed as VLCADD through neonatal screening for inherited metabolic diseases.and then was treated with a diet of restricting the intake of long chain fatty acids(LCF)and supplementing with medium chain triglycerides(MCT),who suffered from lethargy and poor response after vaccination at the age of 2 months,and died after being rescued.The clinical type was considered as cardiomyopathy type.The blood genetic testing confirmed that it was VLCADD.Two different mutations in the ACADVL gene were identified,including c.652G>A and c.996dup,which came from parents respectively,among which c.996dup was an unreported new frameshift mutation.Conclusion Children with VLCADD-C have an early and critical onset.And it is difficult to reverse the outcome even if the child was early diagnosed through neonatal screening for inherited metabolic diseases.Vaccination may induce acute risk,which should be fully informed to the parents.