Children’s Hospital of Nanjing Medical University
目的 探讨极长链酰基辅酶A脱氢酶缺乏症(very long chain acyl-CoA dehydrogenase deficiency,VLCADD)的临床特征和基因突变情况。方法 收集１例基因确诊的运动后反复血尿的患儿临床资料,分析其临床特征和基因检测结果。以“VLCADD、ACADVL”为关键词,在中国知网、万方数据库、Pubmed、人类基因突变数据库等数据库中检索文献,对已报道VLCADD病例资料进行文献复习。结果 本例患儿,男,11岁2月。反复运动后全身肌肉痛伴血尿入院,临床表现为运动后肌痛,解红色或浓茶色小便,血生化提示谷丙氨酸酶、肌酸激酶、肌红蛋白异常升高,给予对症支持治疗后症状很快缓解。该患儿既往运动智力均正常。基因检测结果显示,患儿ACADVL基因存在复合杂合突变,１个c.1146+6T>A 剪切突变和１个 c.549C>G(p.Tyr183Ter)无义突变。文献复习：国内自2007年至今有10篇文献报道29例VLCADD；临床婴儿早期起病,以心肌病型为主,起病凶险,预后差。肌病型有８例报道,预后较好。该病临床表现存在明显差异性。已报道ACADVL基因有321种致病和可疑致病突变,以错义变异为主。基因型和表型关系还有待进一步研究。结论 报道１例肌病型VLCADD,临床特征为青少年或成人期起病,运动不耐受、肌痛、横纹肌溶解、肌红蛋白尿。其心肌病型常见于新生儿和婴儿早期,起病凶险,病死率高,早期完善血浆酰基肉碱谱和ACADVL基因分子检测明确,饮食干预及治疗可明显改善预后。
Objective To explore the clinical features and gene mutation of the very long chain acyl-CoA dehydrogenase deficiency,VLCADD. Method Collected and analyzed the clinical data and genetic result of a patient with recurrent hematuria after exercise. The literatures of reported cases were retrieved in CNKI, Wanfang database, PubMed, HGMD and other databases with "VLCADD, ACADVL" as the Keywords. Result The male patient was 11 years and 2 months old and was admitted to hospital due muscle pain with hematuria after repeated exercise. The clinical manifestation of the patient included post-exercise muscle pain, relieve red or strong brown urine, abnormal elevation of glutamylinase, creatine kinase and myoglobin indicating by blood biochemistry. The symptoms in patient were relieved quickly after symptomatic and supportive treatment. The motor and intelligence of the patient was normal previous. Analysis of the ACADVL gene of the patient revealed a compound heterozygous mutation, including a splice site mutation c.1146+6T>A and a nonsense mutation c.549C>G p.Tyr183Ter. There have been 10 literature including 29 cases of VLCADD reported in China since 2007. Cardiomyopathy was the main type of the early infantile onset disease. Cardiomyopathy type presented with incidence of dangerous and poor prognosis. There were 8 myopathic type cases reported and the prognosis of myopathic type was good. The clinical symptoms of VLCADD are various and quite different. There are 321 pathogenic or likely pathogenic mutations reported in ACADVL gene, mainly missense mutations. The relationship between genotype and phenotype needs further study.