以转氨酶升高为主的多种酰基辅酶A脱氢酶缺乏症1例临床表现及基因分析

Clinical manifestation and gene analysis of multiple acyl-coa dehydrogenase deficiency with transaminase increase

目的研究1例以转氨酶升高为主的多种酰基辅酶A脱氢酶缺乏症患者临床表现、实验室检查、肌肉活检及基因突变情况分析,并进行文献复习,为该病的早期诊断及治疗提供依据。方法收集1例7岁3月男性患儿的临床资料,采集患儿及父母血标本,采用二代基因测序检测致病基因,腓肠肌穿刺活检明确肌肉病变情况。结果患儿肌肉活检电镜结果示肌纤维内大量脂滴沉积。基因测序结果显示患儿的ETFDH基因存在c.1773_1774del AT p.(Cys592※)无义突变和c.389A>T p.(Asp130Val)错义突变,考虑为复合杂合突变,患儿父母分别为携带者。结论临床上有转氨酶升高为主伴有心肌酶升高、运动障碍者,应尽早进行分子遗传学检查,有条件者行腓肠肌肌肉活检术,可以为患儿家庭提供准确的遗传咨询和产前诊断。

ObjectiveTo study the clinical manifestations of the patients with multiple acyl coa dehydrogenase deficiency with transaminase increase,the laboratory tests,muscle biopsy and gene mutations,and to review the literature in order to provide the evidence for the early diagnosis and treatment of the disease.MethodsCollect the clinical data of a boy aged7years and3months,and take the blood samples of the child and his parents.The second generation gene sequencing was used to detect the pathogenic gene,and gastrocnemius muscle biopsy was used to find out the muscle condition.ResultsThe electron microscopic results of the muscle biopsy showed that there was a lot of lipid droplets in the myofiber.The gene sequencing results showed that there were nonsense mutation of c.1773_1774del AT p.(Cys592※)and missense mutation of c.389A>T p.(Asp130Val)in ETFDH genes of the child,which was considered to be complex heterozygous mutation.The parents were the carriers.ConclusionClinically there are people with transaminase increase complicated with increase of myocardial enzymes and movement disorders,in whom molecular genetic examinations should be performed as soon as possible.The patients with suitable conditions should be given gastrocnemius muscle biopsy,which can provide accurate hereditary consultation and prenatal diagnosis for the family of the patient.